Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.
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Ron A Wevers | Eva Morava | Suzan Wopereis | R. Wevers | S. Wopereis | E. Morava | D. Lefeber | Dirk J Lefeber
[1] R. Dwek,et al. Concepts and principles of O-linked glycosylation. , 1998, Critical reviews in biochemistry and molecular biology.
[2] J. Seyer,et al. Covalent structure of collagen: amino acid sequence of cyanogen bromide peptides from the amino-terminal segment of type III collagen of human liver. , 1977, Biochemistry.
[3] R. Wevers,et al. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. , 2005, Glycobiology.
[4] R. Bergman,et al. Absence of Intraepidermal Glycosyltransferase ppGalNac-T3 Expression in Familial Tumoral Calcinosis , 2005, The American Journal of dermatopathology.
[5] R. Weinshilboum,et al. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase: radiochemical enzymatic assay, biochemical properties, and hepatic variation. , 2001, Drug metabolism and disposition: the biological fate of chemicals.
[6] K. Matsumura,et al. Detection of O-mannosyl glycans in rabbit skeletal muscle α-dystroglycan , 1998 .
[7] T. Endo. Structure, function and pathology of O-mannosyl glycans , 2004, Glycoconjugate Journal.
[8] H. Kitagawa,et al. Molecular Cloning and Expression of a Second Chondroitin N-Acetylgalactosaminyltransferase Involved in the Initiation and Elongation of Chondroitin/Dermatan Sulfate* , 2003, The Journal of Biological Chemistry.
[9] E. Thonar,et al. Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. , 1986, American journal of ophthalmology.
[10] R. Wevers,et al. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. , 1992, Clinical chemistry.
[11] A. B. Grayeli,et al. Increased Activity of the Diastrophic Dysplasia Sulfate Transporter in Otosclerosis and Its Inhibition by Sodium Fluoride , 2003, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.
[12] E. Guillén,et al. Mammalian Golgi apparatus UDP-N-acetylglucosamine transporter: molecular cloning by phenotypic correction of a yeast mutant. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[13] A. Superti-Furga,et al. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation , 1999, Journal of medical genetics.
[14] B. Hamel,et al. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W , 2003, Journal of medical genetics.
[15] A. Dove. The bittersweet promise of glycobiology , 2001, Nature Biotechnology.
[16] T A Rapoport,et al. Protein transport across the eukaryotic endoplasmic reticulum and bacterial inner membranes. , 1996, Annual review of biochemistry.
[17] J. Gallagher. Heparan sulfate: growth control with a restricted sequence menu. , 2001, The Journal of clinical investigation.
[18] D. Carson,et al. Mammalian reproductive tract mucins. , 1999, Human reproduction update.
[19] I. Brockhausen,et al. ProcessingO-glycan core 1, Galβ1-3GalNAcα-R. Specificities of core 2, UDP-GlcNAc: Galβ1-3GalNAc-R(GlcNAc to GalNAc) β6-N-acetylglucosaminyltransferase and CMP-sialic acid:Galβ1-3GalNAc-R α3-sialyltransferase , 1993, Glycoconjugate Journal.
[20] I. Kanazawa,et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy , 1998, Nature.
[21] A. Monaco,et al. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. , 1997, American journal of human genetics.
[22] Susan C. Brown,et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. , 2001, Human molecular genetics.
[23] J. Berg. Genome sequence of the nematode C. elegans: a platform for investigating biology. , 1998, Science.
[24] Klintworth Gk,et al. MACULAR CORNEAL DYSTROPHY. AN INHERITED ACID MUCOPOLYSACCHARIDE STORAGE DISEASE OF THE CORNEAL FIBROBLAST. , 1964 .
[25] R. Oriol,et al. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. , 2005, Blood.
[26] R. U. Margolis,et al. Brain Contains HNK-1 Immunoreactive O-Glycans of the Sulfoglucuronyl Lactosamine Series that Terminate in 2-Linked or 2,6-Linked Hexose (Mannose)* , 1997, The Journal of Biological Chemistry.
[27] W. Reutter,et al. Primary structure and expression analysis of human UDP‐N‐acetyl‐glucosamine‐2‐epimerase/N‐acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis1 , 1999, FEBS letters.
[28] R. Dwek,et al. O-Linked Glycosylation in Focus , 2000 .
[29] K. Campbell,et al. Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies , 2002, Nature.
[30] T. Nilsson,et al. Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum. , 2003, Molecular biology of the cell.
[31] S. Martinez,et al. Tumoral Calcinosis: 12 Years Later , 2002, Seminars in musculoskeletal radiology.
[32] Andrew Smith. Genome sequence of the nematode C-elegans: A platform for investigating biology , 1998 .
[33] G. Hoffmann,et al. Congenital Disorder of Glycosylation IId (CDG-IId) - A New Entity: Clinical Presentation with Dandy-Walker Malformation and Myopathy , 2002, Neuropediatrics.
[34] L. Otvos,et al. Comparison of the effects of amino acid substitutions and beta-N- vs. alpha-O-glycosylation on the T-cell stimulatory activity and conformation of an epitope on the rabies virus glycoprotein. , 1995, Biochimica et biophysica acta.
[35] K. Kivirikko,et al. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients. , 1994, Genomics.
[36] T. Rapoport,et al. Protein Translocation: Tunnel Vision , 1998, Cell.
[37] R Apweiler,et al. On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database. , 1999, Biochimica et biophysica acta.
[38] R. Pauli,et al. Natural history study of hereditary multiple exostoses. , 1995, American journal of medical genetics.
[39] H. Rahmoune,et al. Structures of monosialyl oligosaccharides isolated from the respiratory mucins of a non-secretor (O, Lea+b-) patient suffering from chronic bronchitis. Characterization of a novel type of mucin carbohydrate core structure. , 1994, Glycobiology.
[40] D. Seligson,et al. Clinical Chemistry , 1965, Bulletin de la Societe de chimie biologique.
[41] L. Tsui,et al. A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type , 2004, American journal of medical genetics. Part A.
[42] M. Ōsawa,et al. Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations — , 1981, Brain and Development.
[43] M. Tsujimoto,et al. Role of sugar chains in the in-vitro activity of recombinant human interleukin 5. , 1993, European journal of biochemistry.
[44] S. Mitrani‐Rosenbaum,et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy , 2003, Neurology.
[45] 鹿野 博亀. Deficiency of α-dystroglycan in muscle-eye-brain disease , 2004 .
[46] A. Remaley,et al. Expression of human glycophorin A in wild type and glycosylation-deficient Chinese hamster ovary cells. Role of N- and O-linked glycosylation in cell surface expression. , 1991, The Journal of biological chemistry.
[47] Martin Brockington,et al. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. , 2005, Human molecular genetics.
[48] A. Munnich,et al. Genotype-phenotype correlation in hereditary multiple exostoses , 2001, Journal of medical genetics.
[49] W. Kisiel,et al. Identification of a disaccharide (Xyl-Glc) and a trisaccharide (Xyl2-Glc) O-glycosidically linked to a serine residue in the first epidermal growth factor-like domain of human factors VII and IX and protein Z and bovine protein Z. , 1989, The Journal of biological chemistry.
[50] T. Gerken,et al. Role of glycosylation on the conformation and chain dimensions of O-linked glycoproteins: light-scattering studies of ovine submaxillary mucin. , 1989, Biochemistry.
[51] H. Kitagawa,et al. Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate. , 2002, The Journal of biological chemistry.
[52] Hetal N. Patel,et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders , 2003, Nature Genetics.
[53] E. Koonin,et al. The fukutin protein family – predicted enzymes modifying cell-surface molecules , 1999, Current Biology.
[54] M. Wagner,et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) , 1995, Nature Genetics.
[55] G. Dacremont,et al. Dominant inheritance of sialuria, an inborn error of feedback inhibition. , 2001, American journal of human genetics.
[56] A. Shatunov,et al. Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations , 2004 .
[57] Kazuro Furukawa,et al. Molecular Basis for the Progeroid Variant of Ehlers-Danlos Syndrome , 1999, The Journal of Biological Chemistry.
[58] H. Gabius,et al. Eukaryotic glycosylation: whim of nature or multipurpose tool? , 1999, Cellular and Molecular Life Sciences CMLS.
[59] R. Wevers,et al. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder , 2005, Journal of Inherited Metabolic Disease.
[60] M. Huynen,et al. POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome , 2005, Journal of Medical Genetics.
[61] R. Haltiwanger,et al. O-fucose modifications of epidermal growth factor-like repeats and thrombospondin type 1 repeats: unusual modifications in unusual places , 2003, Cellular and Molecular Life Sciences CMLS.
[62] R. Ruddon,et al. O-Glycosylation of the α-Subunit Does not Limit the Assembly of Chorionic Gonadotropin αβ Dimer in Human Malignant and Nonmalignant Trophoblast Cells , 1989 .
[63] J. Feeney,et al. Structural analysis of the O-glycosidically linked core-region oligosaccharides of human meconium glycoproteins which express oncofoetal antigens. , 1985, European journal of biochemistry.
[64] R. Haltiwanger,et al. O-Fucosylation of Notch Occurs in the Endoplasmic Reticulum* , 2005, Journal of Biological Chemistry.
[65] Xinhua Lin,et al. Functions of heparan sulfate proteoglycans in cell signaling during development , 2004, Development.
[66] N. Niikawa,et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) , 2002, Journal of Human Genetics.
[67] Lawrence A Tabak,et al. All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases. , 2003, Glycobiology.
[68] B. Cormand,et al. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype , 2003, Journal of medical genetics.
[69] M. Yoshioka,et al. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. , 1994, American journal of medical genetics.
[70] E. Levy,et al. Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. , 1987, Gastroenterology.
[71] E. Mekada,et al. Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals. , 1993, Blood.
[72] C. Sato,et al. Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. , 2005, The American journal of pathology.
[73] I. Kanazawa,et al. Structures of Sialylated O-Linked Oligosaccharides of Bovine Peripheral Nerve α-Dystroglycan , 1997, The Journal of Biological Chemistry.
[74] P. Robbins,et al. Transporters of nucleotide sugars, ATP, and nucleotide sulfate in the endoplasmic reticulum and Golgi apparatus. , 1998, Annual review of biochemistry.
[75] S. Krane,et al. Human collagens: differences in glycosylated hydroxylysines in skin and bone. , 1971, Biochimica et biophysica acta.
[76] W. Hong,et al. The Binary Interacting Network of the Conserved Oligomeric Golgi Tethering Complex* , 2004, Journal of Biological Chemistry.
[77] A. Imberty,et al. Molecular dynamics simulations of solvated UDP-glucose in interaction with Mg2+ cations. , 2001, European journal of biochemistry.
[78] J F Vliegenthart,et al. New type of linkage between a carbohydrate and a protein: C-glycosylation of a specific tryptophan residue in human RNase Us. , 1994, Biochemistry.
[79] B. Cormand,et al. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease , 2004, Journal of Medical Genetics.
[80] S. Fujii,et al. N-Acetylglucosaminyltransferase IX Acts on the GlcNAcβ1,2-Manα1-Ser/Thr Moiety, Forming a 2,6-Branched Structure in Brain O-Mannosyl Glycan* , 2004, Journal of Biological Chemistry.
[81] Y. Sunada,et al. Fukuyama‐type congenital muscular dystrophy (FCMD) and α‐dystroglycanopathy , 2003 .
[82] J. Marth,et al. A genetic approach to Mammalian glycan function. , 2003, Annual review of biochemistry.
[83] S. Mundlos,et al. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[84] E. Thonar,et al. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene , 2000, Nature Genetics.
[85] B. Maček,et al. C-Mannosylation and O-Fucosylation of the Thrombospondin Type 1 Module* , 2001, The Journal of Biological Chemistry.
[86] H. Brunner,et al. Glyc‐O‐genetics of Walker–Warburg syndrome , 2004, Clinical genetics.
[87] H. Freeze,et al. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) , 2000, The Journal of clinical investigation.
[88] J. Bonifacino,et al. The Mechanisms of Vesicle Budding and Fusion , 2004, Cell.
[89] R. Gerardy-Schahn,et al. Endoplasmic reticulum retention of the large splice variant of the UDP-galactose transporter is caused by a dilysine motif. , 2005, Glycobiology.
[90] Ron A Wevers,et al. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. , 2005, Biochimica et biophysica acta.
[91] C. Walsh,et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. , 2002, American journal of human genetics.
[92] C. J. Waechter,et al. The ins(ide) and out(side) of dolichyl phosphate biosynthesis and recycling in the endoplasmic reticulum. , 2001, Glycobiology.
[93] I. Kaitila,et al. Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. , 1998, Matrix biology : journal of the International Society for Matrix Biology.
[94] Y. Iwakura,et al. Impaired galactosylation of core 2 O-glycans in erythrocytes of beta1,4-galactosyltransferase knockout mice. , 1999, Biochemical and biophysical research communications.
[95] E. Quentin,et al. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[96] S. Mundlos,et al. Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement , 2004, American journal of medical genetics. Part A.
[97] R. Gitzelmann,et al. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. , 1996, American journal of medical genetics.
[98] A. Superti-Furga,et al. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance , 2001, Human mutation.
[99] E. Lander,et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene , 1996, Nature Genetics.
[100] E. Thonar,et al. Macular dystrophy of the cornea. A systemic disorder of keratan sulfate metabolism. , 1990, Ophthalmology.
[101] F. Beemer,et al. Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia , 1996, Human Genetics.
[102] R. Cummings,et al. A unique molecular chaperone Cosmc required for activity of the mammalian core 1 β3-galactosyltransferase , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[103] M. Bayés,et al. Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease , 2001, Neurology.
[104] M. Krieger,et al. The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins. , 2004, Molecular biology of the cell.
[105] Susan C. Brown,et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. , 2001, American journal of human genetics.
[106] A. Varki,et al. Factors controlling the glycosylation potential of the Golgi apparatus. , 1998, Trends in cell biology.
[107] G. Hart,et al. O‐GlcNAc turns twenty: functional implications for post‐translational modification of nuclear and cytosolic proteins with a sugar , 2003, FEBS letters.
[108] E. Lander,et al. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. , 1996, American journal of human genetics.
[109] A. Garner. Histochemistry of corneal macular dystrophy. , 1969, Investigative ophthalmology.
[110] E. Berger,et al. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. , 2002, The Journal of clinical investigation.
[111] P. Robbins,et al. Guanosine diphosphatase is required for protein and sphingolipid glycosylation in the Golgi lumen of Saccharomyces cerevisiae , 1993, The Journal of cell biology.
[112] W. Gahl,et al. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. , 1999, American journal of human genetics.
[113] G. Hart,et al. Dynamic O-linked glycosylation of nuclear and cytoskeletal proteins. , 1997, Annual review of biochemistry.
[114] L. Sturla,et al. Differential Terminal Fucosylation of N-Linked Glycans Versus Protein O-Fucosylation in Leukocyte Adhesion Deficiency Type II (CDG IIc)* , 2003, Journal of Biological Chemistry.
[115] N. Schwartz,et al. Xylosylation is an endoplasmic reticulum to Golgi event. , 1993, The Journal of biological chemistry.
[116] A. Varki,et al. Diversity in the sialic acids , 1992, Glycobiology.
[117] G. Morgan. Macular dystrophy of the cornea. , 1966, The British journal of ophthalmology.
[118] E. Levy,et al. Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. , 1987, Journal of lipid research.
[119] O. Reizes,et al. Cell Surface Heparan Sulfate Proteoglycans: Selective Regulators of Ligand-Receptor Encounters* , 2000, The Journal of Biological Chemistry.
[120] Toshihiko Oka,et al. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function , 2002, The Journal of cell biology.
[121] R. Baxter,et al. Serum "big insulin-like growth factor II" from patients with tumor hypoglycemia lacks normal E-domain O-linked glycosylation, a possible determinant of normal propeptide processing. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[122] H. Kitagawa,et al. Molecular Cloning and Expression of a Human Chondroitin Synthase* , 2001, The Journal of Biological Chemistry.
[123] R. Marchase,et al. Protein O-GlcNAc Modulates Motility-associated Signaling Intermediates in Neutrophils* , 2005, Journal of Biological Chemistry.
[124] S. Gauthier,et al. Action tremor as a manifestation of chylomicron retention disease , 1983, Annals of neurology.
[125] E. Engvall,et al. Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker‐Warburg syndrome (cerebroocular dysplasia‐muscular dystrophy) , 1995, Neurology.
[126] O. Bohorov,et al. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder , 2004, Nature Medicine.
[127] N. Maraldi,et al. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. , 2003, Biochimica et biophysica acta.
[128] F. Muntoni,et al. Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. , 1995, Neuropediatrics.
[129] Reed J. Harris,et al. O-linked fucose and other post-translational modifications unique to EGF modules. , 1993, Glycobiology.
[130] M. Kawakita,et al. Molecular characterization of human UDP‐glucuronic acid/UDP‐N‐acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity , 2001, FEBS letters.
[131] W. Young. Organization of Golgi Glycosyltransferases in Membranes: Complexity via Complexes , 2004, The Journal of Membrane Biology.
[132] M. Kawakita,et al. Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35) , 2004, Pflügers Archiv.
[133] W. Balch,et al. A journey through the exocytic pathway. , 2002, Journal of cell science.
[134] O. Mäkitie,et al. Growth in diastrophic dysplasia. , 1997, The Journal of pediatrics.
[135] S J Winder,et al. The complexities of dystroglycan. , 2001, Trends in biochemical sciences.
[136] W. Engel,et al. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. , 1998, Current opinion in rheumatology.
[137] Pauline M Rudd,et al. An analytical and structural database provides a strategy for sequencing O-glycans from microgram quantities of glycoproteins. , 2002, Analytical biochemistry.
[138] L. Ala‐Kokko,et al. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI , 1992, Nature Genetics.
[139] G. Thomas,et al. Overproduction of N-Acetylneuraminic Acid (Sialic Acid) by Sialuria Fibroblasts , 1985, Pediatric Research.
[140] F. Vogel,et al. MACULAR CORNEAL DYSTROPHY. AN INHERITED ACID MUCOPOLYSACCHARIDE STORAGE DISEASE OF THE CORNEAL FIBROBLAST. , 1964, The American journal of pathology.
[141] J. Lippincott-Schwartz,et al. Molecular basis for Golgi maintenance and biogenesis. , 2004, Current opinion in cell biology.
[142] J. Hanover,et al. Mitochondrial and nucleocytoplasmic targeting of O-linked GlcNAc transferase , 2003, Journal of Cell Science.
[143] E. Berger,et al. Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus. , 1998, Journal of cell science.
[144] Y. Koda,et al. Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. , 1997, Biochemical and biophysical research communications.
[145] Eric S. Lander,et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping , 1994, Cell.
[146] R. Elble. Intracerebral hemorrhage with herpes zoster ophthalmicus , 1983, Annals of neurology.
[147] A. Varki,et al. Biological roles of oligosaccharides: all of the theories are correct , 1993, Glycobiology.
[148] E. Schönherr,et al. Biosynthesis and interactions of small chondroitin/dermatan sulphate proteoglycans. , 1994, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.
[149] H. Topaloglu,et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene , 2005, Neuromuscular Disorders.
[150] K. Tachibana,et al. Characterization of a novel human UDP‐GalNAc transferase, pp‐GalNAc‐T15 , 2004, FEBS letters.
[151] P. Tonali,et al. α-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy , 2005, Neuromuscular Disorders.
[152] J. Wieruszeski,et al. The broad diversity of neutral and sialylated oligosaccharides derived from human salivary mucins. , 1992, Biochemistry.
[153] A. Superti-Furga. A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. , 1994, American journal of human genetics.
[154] T. Toda,et al. A new mutation of the fukutin gene in a non‐Japanese patient , 2003, Annals of neurology.
[155] Jean-Jacques Martin,et al. Sporadic early adult-onset distal myopathy with rimmed vacuoles: immunohistochemistry and electron microscopy , 1996, Journal of the Neurological Sciences.
[156] Masao Kawakita,et al. Human and Drosophila UDP-galactose transporters transport UDP-N-acetylgalactosamine in addition to UDP-galactose. , 2002, European journal of biochemistry.
[157] T. Endo. O-mannosyl glycans in mammals. , 1999, Biochimica et biophysica acta.
[158] S. Kornfeld,et al. Lysosomal enzyme targeting. , 1990, Biochemical Society transactions.
[159] D. Podolsky,et al. Oligosaccharide structures of human colonic mucin. , 1985, The Journal of biological chemistry.
[160] R. Wevers,et al. Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. , 2003, Clinical chemistry.
[161] J. Esko,et al. Influence of core protein sequence on glycosaminoglycan assembly. , 1996, Current opinion in structural biology.
[162] R. Spiro. Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds. , 2002, Glycobiology.
[163] H. Maccioni,et al. Endoplasmic reticulum export of glycosyltransferases depends on interaction of a cytoplasmic dibasic motif with Sar1. , 2003, Molecular biology of the cell.
[164] F. Cavalcanti,et al. Vitamin E deficiency due to chylomicron retention disease in Marinesco‐Sjögren syndrome , 2000, Annals of neurology.
[165] K. Yarema,et al. The homozygous M712T mutation of UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy , 2004, FEBS letters.
[166] W. Dobyns,et al. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. , 2003, Clinical biochemistry.
[167] Rita Gerardy-Schahn,et al. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter , 2001, Nature Genetics.
[168] I. Brockhausen. Pathways of O-glycan biosynthesis in cancer cells. , 1999, Biochimica et biophysica acta.
[169] E. Zanoteli,et al. Fukuyama‐type congenital muscular dystrophy: a case report in the Japanese population living in Brazil , 2002, Acta neurologica Scandinavica.
[170] J. Lowe,et al. Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[171] I. Nonaka,et al. Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease , 2002 .
[172] F. Muntoni,et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome , 2004, Journal of Medical Genetics.
[173] R. Gerardy-Schahn,et al. Expression cloning of the Golgi CMP-sialic acid transporter. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[174] P. Bettica,et al. Collagen type I of rat cortical and trabecular bone differs in the extent of posttranslational modifications , 2006, Calcified Tissue International.
[175] Rahul Raman,et al. Structural insights into biological roles of protein-glycosaminoglycan interactions. , 2005, Chemistry & biology.
[176] D. Darvish. Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. , 2003, Medical hypotheses.
[177] R. Haltiwanger,et al. O-glycosylation of EGF repeats: identification and initial characterization of a UDP-glucose: protein O-glucosyltransferase. , 2002, Glycobiology.
[178] J. Zlotogora. Hereditary disorders among Iranian Jews. , 1995, American journal of medical genetics.
[179] S. Krane,et al. Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. , 1972, Proceedings of the National Academy of Sciences of the United States of America.
[180] M. Mizuno,et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. , 2001, Developmental cell.
[181] L. Wilkins. FKRP gene mutations cause congenital muscular dystrophy, mental retardation and cerebellar cysts , 2003, Neurology.
[182] O Habuchi,et al. Diversity and functions of glycosaminoglycan sulfotransferases. , 2000, Biochimica et biophysica acta.
[183] G. Lennon,et al. Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. , 1995, The Journal of biological chemistry.
[184] Susan C. Brown,et al. Phenotypic spectrum associated with mutations in the fukutin‐related protein gene , 2003, Annals of neurology.
[185] Kayoko Saito,et al. Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy , 2001, Brain and Development.
[186] R. U. Margolis,et al. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[187] I. Nonaka,et al. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation , 1981, Journal of the Neurological Sciences.
[188] R. Gershoni-baruch,et al. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. , 1992, American journal of medical genetics.
[189] S. Yazawa,et al. N-acetyl-beta-D-glucosaminyltransferases related to the synthesis of mucin-type glycoproteins in human ovarian tissue. , 1986, Carbohydrate research.
[190] M. Zatz,et al. Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum , 2003, European Journal of Human Genetics.
[191] E. Green,et al. Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. , 2002, American journal of medical genetics.
[192] Wenli Zhang,et al. The role of defective glycosylation in congenital muscular dystrophy , 2003, Glycoconjugate Journal.
[193] K. Kivirikko,et al. Posttranslational enzymes in the biosynthesis of collagen: intracellular enzymes. , 1982, Methods in enzymology.
[194] B. Kaufman,et al. Effects of deglycosylation on the architecture of ovine submaxillary mucin glycoprotein. , 1984, The Journal of biological chemistry.
[195] N. Smalheiser,et al. Structural Analysis of Sequences O-Linked to Mannose Reveals a Novel Lewis X Structure in Cranin (Dystroglycan) Purified from Sheep Brain* , 1998, The Journal of Biological Chemistry.
[196] K. Campbell,et al. Dystroglycan inside and out. , 1999, Current opinion in cell biology.
[197] Tsviya Olender,et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy , 2001, Nature Genetics.
[198] Susan C. Brown,et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. , 2003, Human molecular genetics.
[199] Charles Barlowe,et al. Signals for COPII-dependent export from the ER: what's the ticket out? , 2003, Trends in cell biology.
[200] Michael Loran Dustin,et al. A Novel Mutagenesis Strategy Identifies Distantly Spaced Amino Acid Sequences That Are Required for the Phosphorylation of Both the Oligosaccharides of Procathepsin D by N-Acetylglucosamine 1-Phosphotransferase (*) , 1995, The Journal of Biological Chemistry.
[201] G. Raymond,et al. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. , 2001, The Journal of clinical investigation.
[202] T. Pawson,et al. The discoidin domain receptor tyrosine kinases are activated by collagen. , 1997, Molecular cell.
[203] Carolyn R Bertozzi,et al. The roles of enzyme localisation and complex formation in glycan assembly within the Golgi apparatus. , 2004, Current opinion in cell biology.
[204] Amos Etzioni,et al. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency , 2001, Nature Genetics.
[205] I. Dunham,et al. The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[206] E. L. Kean. Nuclear cytidine 5'-monophosphosialic acid synthetase. , 1970, The Journal of biological chemistry.
[207] M. Lentze,et al. Impact of O-glycosylation on the function of human intestinal lactase-phlorizin hydrolase. Characterization of glycoforms varying in enzyme activity and localization of O-glycoside addition. , 1992, The Journal of biological chemistry.
[208] D. Behar,et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis , 2004, Nature Genetics.
[209] K. Campbell,et al. Molecular Recognition by LARGE Is Essential for Expression of Functional Dystroglycan , 2004, Cell.
[210] M. McNiven,et al. Motoring around the Golgi , 2002, Nature Cell Biology.
[211] Sae-Yong Hong,et al. Isolation, Identification, and Quantitation of Urinary Glycosaminoglycans , 2003, American Journal of Nephrology.
[212] D. Rimoin,et al. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. , 1998, American journal of medical genetics.
[213] S. Brunak,et al. Prediction, conservation analysis, and structural characterization of mammalian mucin-type O-glycosylation sites. , 2005, Glycobiology.
[214] R. Cantor,et al. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse , 1998, Nature Genetics.
[215] T Nilsson,et al. Retention and retrieval in the endoplasmic reticulum and the Golgi apparatus , 1994, Current Opinion in Cell Biology.
[216] Alec Gaener. Histochemistry of corneal macular dystrophy. , 1969 .
[217] S. Kornfeld,et al. THE FEEDBACK CONTROL OF SUGAR NUCLEOTIDE BIOSYNTHESIS IN LIVER. , 1964, Proceedings of the National Academy of Sciences of the United States of America.
[218] P. Gleeson,et al. Trafficking and localisation of resident Golgi glycosylation enzymes. , 2001, Biochimie.
[219] H. Kitagawa,et al. Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans. , 2000, Current opinion in structural biology.
[220] K. Campbell,et al. LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies , 2004, Nature Medicine.
[221] K. von Figura,et al. A New Type of Carbohydrate-deficient Glycoprotein Syndrome Due to a Decreased Import of GDP-fucose into the Golgi* , 1999, The Journal of Biological Chemistry.
[222] F. Muntoni,et al. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan , 2003, Neuromuscular Disorders.
[223] H. Yeowell,et al. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. , 2000, Molecular genetics and metabolism.
[224] C. Varela-Casariego,et al. Aneurisma de aorta abdominal roto e hiperostosis esquelética idiopática difusa , 2006 .
[225] R. Gerardy-Schahn,et al. The Human Solute Carrier Gene SLC35B4 Encodes a Bifunctional Nucleotide Sugar Transporter with Specificity for UDP-Xylose and UDP-N-Acetylglucosamine* , 2005, Journal of Biological Chemistry.
[226] E. Thonar,et al. Quantification of keratan sulfate in blood as a marker of cartilage catabolism. , 1985, The Journal of rheumatology.
[227] D. Rimoin,et al. The phenotypic variability of diastrophic dysplasia. , 1978, The Journal of pediatrics.
[228] E. Bennett,et al. cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3. , 1996, The Journal of biological chemistry.
[229] I. Nonaka,et al. Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan , 2005, Neuromuscular Disorders.
[230] R. Slavin,et al. Familial Tumoral Calcinosis: A Clinical, Histopathologic, and Ultrastructural Study with an Analysis of its Calcifying Process and Pathogenesis , 1993, The American journal of surgical pathology.