Nuclear genes in mitochondrial disorders.
暂无分享,去创建一个
[1] W. Dinjens,et al. Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. , 2002, Clinical cancer research : an official journal of the American Association for Cancer Research.
[2] E. Puffenberger,et al. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. , 2002, American journal of medical genetics.
[3] G. Shadel,et al. Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop , 2003, Nature Genetics.
[4] Leena Peltonen,et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. , 2002, American journal of human genetics.
[5] G. Lenaers,et al. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. , 2002, Molecular genetics and metabolism.
[6] B. Baysal. Hereditary paraganglioma targets diverse paraganglia , 2002, Journal of medical genetics.
[7] L. Tranebjaerg,et al. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. , 2002, Human molecular genetics.
[8] H. Jacobs,et al. Biased Incorporation of Ribonucleotides on the Mitochondrial L-Strand Accounts for Apparent Strand-Asymmetric DNA Replication , 2002, Cell.
[9] V. Petruzzella,et al. Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene. , 2002, Gene.
[10] E. Shoubridge,et al. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. , 2003, American journal of human genetics.
[11] G. Lenaers,et al. The human dynamin‐related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter‐membrane space , 2002, FEBS letters.
[12] J. Smeitink,et al. CIA30 complex I assembly factor: a candidate for human complex I deficiency? , 2002, Human Genetics.
[13] H. Jacobs,et al. Coupled Leading- and Lagging-Strand Synthesis of Mammalian Mitochondrial DNA , 2000, Cell.
[14] S. Dimauro,et al. Mitochondrial DNA depletion and dGK gene mutations , 2002, Annals of neurology.
[15] S. Dimauro,et al. Coenzyme Q– responsive Leigh's encephalopathy in two sisters , 2002, Annals of neurology.
[16] D. A. Clayton,et al. Replication of animal mitochondrial DNA , 1982, Cell.
[17] A. Paetau,et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer , 2002, Nature Genetics.
[18] M. Krawczak,et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene , 2001, Human Genetics.
[19] G. Shadel,et al. A Human Mitochondrial Transcription Factor Is Related to RNA Adenine Methyltransferases and Binds S-Adenosylmethionine , 2002, Molecular and Cellular Biology.
[20] Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. , 2002 .
[21] V. Tiranti,et al. Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. , 1999, Human molecular genetics.
[22] C. Eng,et al. The pressure rises: update on the genetics of phaeochromocytoma. , 2002, Human molecular genetics.
[23] J. Smeitink,et al. Respiratory chain complex I deficiency. , 2001, American journal of medical genetics.
[24] T. Rosenberg,et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. , 2002, Investigative ophthalmology & visual science.
[25] P. Rustin,et al. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. , 2002, The Journal of clinical endocrinology and metabolism.
[26] G. Lenaers,et al. Loss of OPA1 Perturbates the Mitochondrial Inner Membrane Structure and Integrity, Leading to Cytochrome c Release and Apoptosis* , 2003, The Journal of Biological Chemistry.
[27] E. Shoubridge,et al. Cytochrome c Oxidase Deficiency , 1990, Pediatric Research.
[28] E. Shoubridge,et al. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. , 2001, Human molecular genetics.
[29] J. Schipper,et al. Germ-line mutations in nonsyndromic pheochromocytoma. , 2002, The New England journal of medicine.
[30] Salvatore DiMauro,et al. Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome , 2002, Annals of neurology.
[31] A. Munnich,et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure , 2001, Nature Genetics.
[32] S. Dimauro,et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency , 2001, Neurology.
[33] I. Nishino,et al. Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase* , 2002, The Journal of Biological Chemistry.
[34] M. Zeviani. The expanding spectrum of nuclear gene mutations in mitochondrial disorders. , 2001, Seminars in cell & developmental biology.
[35] T. Kunkel,et al. Active Site Mutation in DNA Polymerase γ Associated with Progressive External Ophthalmoplegia Causes Error-prone DNA Synthesis* , 2002, The Journal of Biological Chemistry.
[36] J. Benítez,et al. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma , 2002, European Journal of Human Genetics.
[37] M. Fukushima,et al. Targeted Deletion of Both Thymidine Phosphorylase and Uridine Phosphorylase and Consequent Disorders in Mice , 2002, Molecular and Cellular Biology.
[38] Alejandro A. Schäffer,et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly , 2002, Nature Genetics.
[39] E. Shoubridge,et al. Nuclear genetic control of mitochondrial DNA segregation , 2003, Nature Genetics.
[40] S. Dimauro,et al. Mitochondrial DNA depletion , 2002, Neurology.
[41] S. Dimauro,et al. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. , 2002, Archives of neurology.
[42] P. Rustin,et al. Inborn errors of complex II--unusual human mitochondrial diseases. , 2002, Biochimica et biophysica acta.
[43] V. Tiranti,et al. Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia , 2002, Annals of neurology.
[44] B. Ackrell. Cytopathies involving mitochondrial complex II. , 2002, Molecular aspects of medicine.
[45] R. Sergott,et al. Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis. , 2002, Current opinion in ophthalmology.
[46] Eric S. Lander,et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[47] W. Rubinstein,et al. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas , 2002, Journal of medical genetics.
[48] Ann Saada,et al. Kinetic Properties of Mutant Human Thymidine Kinase 2 Suggest a Mechanism for Mitochondrial DNA Depletion Myopathy* , 2003, The Journal of Biological Chemistry.
[49] P. Vreken,et al. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. , 2002, The Journal of pediatrics.
[50] P. Bénit,et al. Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes. , 2002, Human molecular genetics.
[51] C. Broeckhoven,et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions , 2001, Nature Genetics.
[52] Ronald W. Davis,et al. Systematic screen for human disease genes in yeast , 2002, Nature Genetics.
[53] C. Gustafsson,et al. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA , 2002, Nature Genetics.
[54] A. Schapira,et al. Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium* , 2003, The Journal of Biological Chemistry.
[55] V. Tiranti,et al. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. , 2003, Human molecular genetics.
[56] I. Nishino,et al. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. , 2001, Seminars in cell & developmental biology.
[57] A. Barrientos,et al. Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome , 2002, The EMBO journal.
[58] S. Dimauro,et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency , 1997, Neurology.
[59] L. Grivell,et al. Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast , 2001, FEBS letters.