D. Mahuran

发表

Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins

P. Savage, L. Teyton, Dapeng Zhou, 2004, Science.

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).

J. Callahan, D. Mahuran, R. Bagshaw, 2006, American journal of human genetics.

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

R. Salvayre, F. Dubas, T. Levade, 1996, Biochimica et biophysica acta.

A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle*S

Richard D. Bagshaw, John W. Callahan, J. Callahan, 2005, Molecular & Cellular Proteomics.

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.

A. Kermode, D. Mahuran, M. Tropak, 2012, Molecular genetics and metabolism.

1-Deoxy-d-galactonojirimycins with dansyl capped N-substituents as β-galactosidase inhibitors and potential probes for GM1 gangliosidosis affected cell lines

S. Withers, R. Furneaux, Richard F. G. Fröhlich, 2011, Carbohydrate research.

Lending a helping hand, screening chemical libraries for compounds that enhance β‐hexosaminidase A activity in GM2 gangliosidosis cells

D. Mahuran, M. Tropak, 2007, The FEBS journal.

Pharmacological Enhancement of β-Hexosaminidase Activity in Fibroblasts from Adult Tay-Sachs and Sandhoff Patients*

S. Withers, D. Mahuran, M. Guiral, 2004, Journal of Biological Chemistry.

Synthesis of 1,5-dideoxy-1,5-iminoribitol C-glycosides through a nitrone-olefin cycloaddition domino strategy: identification of pharmacological chaperones of mutant human lysosomal β-galactosidase.

Sougata Ghosh, D. Dhavale, B. Chopade, 2014, The Journal of organic chemistry.

Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease.

S. Withers, E. Goddard-Borger, D. Mahuran, 2012, Journal of medicinal chemistry.

Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.

N. Packer, J. Galpin, T. Haselhorst, 2012, Glycobiology.

Tailoring the specificity and reactivity of a mechanism-based inactivator of glucocerebrosidase for potential therapeutic applications.

S. Withers, D. Mahuran, M. Tropak, 2011, Angewandte Chemie.

Fluorous Iminoalditols: A New Family of Glycosidase Inhibitors and Pharmacological Chaperones

S. Withers, G. Schitter, T. Wrodnigg, 2010, Chembiochem : a European journal of chemical biology.

Functional post-translational proteomics approach to study the role of N-glycans in the development of Caenorhabditis elegans.

J. Rosa, Y. She, V. Reinhold, 2002, Biochemical Society symposium.

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.

P. Thompson, S. Gray, M. Kaytor, 2016, Human gene therapy.

The role of the endosomal/lysosomal system in amyloid-beta production and the pathophysiology of Alzheimer's disease: reexamining the spatial paradox from a lysosomal perspective.

S. Pasternak, J. Callahan, D. Mahuran, 2003, Journal of Alzheimer's disease : JAD.

Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase.

D. Mahuran, K. Neote, R. Gravel, 1990, The Journal of biological chemistry.

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.

C. Curry, D. Mahuran, B. Rigat, 1999, American journal of human genetics.

Cloning and expression of rat histidase. Homology to two bacterial histidases and four phenylalanine ammonia-lyases.

S. J. Sadler, R. Mcinnes, E. Sexsmith, 1990, The Journal of biological chemistry.

β-hexosaminidase: Biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease

D. Mahuran, 1995 .

Purification and proteomic analysis of lysosomal integral membrane proteins.

J. Callahan, D. Mahuran, R. Bagshaw, 2008, Methods in molecular biology.

Nicastrin is a resident lysosomal membrane protein.

S. Pasternak, J. Callahan, D. Mahuran, 2003, Biochemical and biophysical research communications.

The β2 subunit of human placenta hexosaminidase (Hex) A and B is a non-random association of the two polypeptides αa and βb

B. O'dowd, D. Mahuran, J. Lowden, 1984 .

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.

S. Schuster, A. Feigenbaum, M. Natowicz, 1990, The New England journal of medicine.

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

S. Schuster, A. Lamhonwah, J. Stirling, 1988, Nature.

β‐hexosaminidase immunolocalization and α‐ and β‐subunit gene expression in the rat testis and epididymis

L. Hermo, H. Adamali, J. Trasler, 1997 .

Tay–Sachs Disease

D. Mahuran, M. Tropak, 2010 .

The integral membrane of lysosomes: its proteins and their roles in disease.

J. Callahan, D. Mahuran, R. Bagshaw, 2009, Journal of proteomics.

Evidence for the participation of beta-hexosaminidase in human sperm-zona pellucida interaction in vitro.

J. Blaquier, P. V. Miranda, D. Mahuran, 2000, Molecular human reproduction.

Inhibition of Endoplasmic Reticulum Associated Degradation of Mutant Pro-b Subunits of b-Hexosaminidase by Kifunensine and Lactacystin (b-Heksozaminidaz Mutant Öncül-b Altbirimlerin Endoplazmik Retikulum İlişkili Yikiminin Kifunensin ve Laktasistin ile İnhibisyonu) Research Article (Araştirma Makale

D. Mahuran, M. Tropak, I. Sinici, 2009 .

Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.

D. Mahuran, Y. Hou, R. Tse, 1996, Biochemistry.

Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease

M. James, B. Mark, S. Knapp, 2018 .

Thioglycoligase‐Based Assembly of Thiodisaccharides: Screening as β‐Galactosidase Inhibitors

S. Withers, Jin Hyo Kim, Young-Wan Kim, 2007, Chembiochem : a European journal of chemical biology.

Desalting of in-gel-digested protein sample with mini-C18 columns for matrix-assisted laser desorption ionization time of flight peptide mass fingerprinting.

J. Callahan, D. Mahuran, R. Bagshaw, 2000, Analytical biochemistry.

Lysosomal membrane proteomics and biogenesis of lysosomes

J. Callahan, D. Mahuran, R. Bagshaw, 2005, Molecular Neurobiology.

Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.

Douglas R Martin, J. Callahan, E. Crushell, 2012, Molecular genetics and metabolism.

Impaired Glucose Tolerance in a Mouse Model of Sidt2 Deficiency

Xuefan Gu, Jialin Gao, Zhugang Wang, 2013, PloS one.

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

J. Rilstone, C. Ackerley, I. Nishino, 2013, Acta Neuropathologica.

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.

P. Thompson, S. Gray, B. Mark, 2016, Human gene therapy.

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

D. Mahuran, K. Neote, R. Gravel, 1990, The Journal of clinical investigation.

Characterization of the human HEXB gene encoding lysosomal β-hexosaminidase

S. Schuster, D. Mahuran, K. Neote, 1988 .

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

A. Vanderver, C. Blackstone, T. Pierson, 2014, Annals of clinical and translational neurology.

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

D. Mahuran, K. Neote, R. Gravel, 1988, The Journal of biological chemistry.

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

H. Willard, B. O'dowd, M. Anderson, 1986, The Journal of biological chemistry.

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.

R. Finkel, T. Pierson, G. Tennekoon, 2013, Molecular genetics and metabolism.

The amino‐terminal sequences in the pro‐α and ‐β polypeptides of human lysosomal β‐hexosaminidase A and B are retained in the mature isozymes

J. Callahan, D. Mahuran, R. Gravel, 1989 .

A high recovery method for concentrating microgram quantities of protein from large volumes of solution.

D. Mahuran, P. Clements, P. Strasberg, 1983, Analytical biochemistry.

Purification of human liver propionyl-CoA carboxylase by carbon tetrachloride extraction and monomeric avidin affinity chromatography.

K. Lam, D. Mahuran, R. Gravel, 1980, Archives of biochemistry and biophysics.

Lysosomal membranes from beige mice contain higher than normal levels of endoplasmic reticulum proteins.

J. Callahan, D. Mahuran, R. Bagshaw, 2007, Journal of proteome research.

Gene transfer therapy of gaucher disease

J. Callahan, P. Thorner, J. Clarke, 1996 .

Crystallization of human β-hexosaminidase B

M. James, W. B. Church, L. Swenson, 1992 .

The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported

B. Banwell, T. Stockley, S. Blaser, 2006, Pediatrics.

GM2 activator protein inhibits platelet activating factor signaling in rats.

H. Yeger, D. Mahuran, B. Rigat, 2009, Biochemical and biophysical research communications.

In Cellulo Examination of a Beta-Alpha Hybrid Construct of Beta-Hexosaminidase A Subunits, Reported to Interact with the GM2 Activator Protein and Hydrolyze GM2 Ganglioside

R. Samulski, W. Wakarchuk, S. Gray, 2013, PloS one.

Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC

A. Sinha, D. Mahuran, Xiaolian Fan, 2011, PloS one.

An α-subunit loop structure is required for GM2 activator protein binding by β-hexosaminidase A

J. Callahan, D. Mahuran, M. Tropak, 2004 .

A Pro504 → Ser Substitution in the β-Subunit of β-Hexosaminidase A Inhibits α-Subunit Hydrolysis of GM2Ganglioside, Resulting in Chronic Sandhoff Disease*

D. Mahuran, A. Hinek, G. Karpati, 1998, The Journal of Biological Chemistry.

W474C amino acid substitution affects early processing of the α‐subunit of β‐hexosaminidase A and is associated with subacute GM2 gangliosidosis

Gregory M Lee, E. Petroulakis, J. Clarke, 1998 .

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

M. Kļaviņš, S. Carpenter, D. Mahuran, 1988, Journal of the Neurological Sciences.

THE INTERMEDIATE HEXOSAMINIDASES OF PLACENTA AND THEIR RELATIONSHIP TO PRECURSOR PROCESSING

B. O'dowd, F. Tsui, D. Mahuran, 1984 .

Characterization of polypeptides serologically and structurally related to hexosaminidase in cultured fibroblasts.

T. Mosmann, F. Tsui, D. Mahuran, 1983, The Journal of clinical investigation.

Characterization ofPolypeptides Serologically andStructurally Related to Hexosaminidase inCultured Fibroblasts

T. Mosmann, F. Tsui, A. Gravel, 1983 .

Identification of proteins in the ceroid-like autofluorescent aggregates from liver lysosomes of Beige, a mouse model for human Chediak-Higashi syndrome.

J. Callahan, D. Mahuran, Huiwen Zhang, 2010, Molecular genetics and metabolism.

Biochemistry and Genetics of Tay-Sachs Disease

D. Mahuran, R. Gravel, B. Triggs-Raine, 1991, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

The Arf-family protein, Arl8b, is involved in the spatial distribution of lysosomes.

J. Callahan, D. Mahuran, R. Bagshaw, 2006, Biochemical and biophysical research communications.

Characterization and substrate specificity of fumarylacetoacetate fumarylhydrolase.

D. Mahuran, D. Schmidt, R. H. Angus, 1977, Canadian journal of biochemistry.

Purification and properties of a diketo acid hydrolase from beef liver.

D. Mahuran, D. Schmidt, S. S. Sim, 1972, Biochemistry.

Production of anti-NC1 antibody by affected male dogs with X-linked hereditary nephritis: A probe for assessing the NC1 domain of collagen type IV in dogs and humans with hereditary nephritis

V. Valli, P. Thorner, P. Marrano, 2005, Virchows Archiv A.

Abnormalities in the NC1 domain of collagen type IV in GBM in canine hereditary nephritis.

R. Mcinnes, V. Valli, P. Thorner, 1989, Kidney international.

Two mechanisms for the recapture of extracellular GM2 activator protein: evidence for a major secretory form of the protein.

D. Mahuran, B. Rigat, A. Leung, 1997, Biochemistry.

Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.

M. James, B. Mark, S. Knapp, 2003, Journal of molecular biology.

Biochemical consequences of mutations causing the GM2 gangliosidoses.

D. Mahuran, 1999, Biochimica et biophysica acta.

The subunit and polypeptide structure of hexosaminidases from human placenta.

D. Mahuran, J. Lowden, 1980, Canadian journal of biochemistry.

Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors

S. Withers, G. Schitter, T. Wrodnigg, 2010, Beilstein journal of organic chemistry.

Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.

D. Mahuran, Brigitte Rigat, Don Mahuran, 2009, Molecular genetics and metabolism.

1-Deoxynojirimycins with dansyl capped N-substituents as probes for Morbus Gaucher affected cell lines.

S. Withers, R. Furneaux, Richard F. G. Fröhlich, 2010, Carbohydrate research.

2-Acetamino-1,2-dideoxynojirimycin-lysine hybrids as hexosaminidase inhibitors.

S. Withers, G. Schitter, T. Wrodnigg, 2009, Tetrahedron, asymmetry.

1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors.

S. Withers, G. Schitter, T. Wrodnigg, 2008, Bioorganic & medicinal chemistry.

The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein.

D. Mahuran, Don J. Mahuran, 1998, Biochimica et biophysica acta.

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease*

Yoshitomo Hamuro, G. Kornhaber, Y. Hamuro, 2009, The Journal of Biological Chemistry.

Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis*

T. Stockley, J. Clarke, D. Mahuran, 2007, Journal of Biological Chemistry.

High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.

S. Withers, E. Brown, D. Mahuran, 2007, Chemistry & biology.

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

W. Wakarchuk, P. Thompson, S. Gray, 2016, Molecular therapy. Methods & clinical development.

Cloning and sequence analysis of a cDNA encoding the β‐subunit of mouse β‐hexosaminidase

D. Mahuran, K. Neote, R. Gravel, 1988 .

13. The β-hexosaminidase story in Toronto: From enzyme structure to gene mutation

D. Mahuran, R. Gravel, 2001 .

Naturally occurring mutations in GM2 gangliosidosis: a compendium.

D. Mahuran, R. Gravel, B. Triggs-Raine, 2001, Advances in genetics.

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

S. Tsuji, N. Wakamatsu, D. Mahuran, 1992, The Journal of clinical investigation.

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.

A. Feigenbaum, D. Mahuran, R. Gravel, 1990, Clinical biochemistry.

The Molecular Basis of Tay-Sachs Disease Identification and Diagnosis Mutation

A. Feigenbaum, D. Mahuran, R. Gravel, 1990 .

The lysosomal hexosaminidase isozymes.

D. Mahuran, A. Novak, J. Lowden, 1985, Isozymes.

The Val'92Leu Mutation in the a-Subunit of p-Hexosaminidase A Is Not Associated with the B1 -Variant Form of Tay-Sachs Disease

G. Vavougios, D. Mahuran, A. Hinek, 2007 .

The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.

K. Wu, G. Vavougios, D. Mahuran, 1996, American journal of human genetics.

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

D. Mahuran, Don J. Mahuran, 1991, Biochimica et biophysica acta.

Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.

B. O'dowd, D. Cumming, D. Mahuran, 1988, Biochemistry.

The Molecular Biology of β-Hexosaminidase: Localization of the Proteolytic Processing and Carbohydrate Containing Sites

D. Mahuran, R. Gravel, 1988 .

Molecular Heterogeneity in O-Variant GM2 Gangliosidosis

H. Willard, B. O'dowd, D. Mahuran, 1986 .

Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-sachs heterozygotes during pregnancy.

D. Mahuran, R. Gold, J. Lowden, 1981, Clinica chimica acta; international journal of clinical chemistry.

Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase A.

D. Mahuran, 1990, The Journal of biological chemistry.

NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders

A. Lamhonwah, I. Tein, A. Schulze, 2016, PloS one.

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β‐glucosidase

D. Lockhart, R. Schiffmann, Y. Lun, 2010, The FEBS journal.

Presenilin-1, Nicastrin, Amyloid Precursor Protein, and γ-Secretase Activity Are Co-localized in the Lysosomal Membrane*

C. Ackerley, B. Pak, S. Pasternak, 2003, Journal of Biological Chemistry.

Identification of the 6-Sulfate Binding Site Unique to α-Subunit-Containing Isozymes of Human β-Hexosaminidase

D. Mahuran, H. Deng, A. Leung, 2001 .

Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B.

S. Withers, D. Vocadlo, D. Mahuran, 2001, Biochemistry.

beta-Hexosaminidase immunolocalization and alpha- and beta-subunit gene expression in the rat testis and epididymis.

L. Hermo, H. Adamali, J. Trasler, 1997, Molecular reproduction and development.

An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A.

J. Callahan, D. Mahuran, M. Tropak, 2004, Biochemical and biophysical research communications.

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

S. Withers, M. James, M. J. Lemieux, 2006, Journal of molecular biology.

beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.

D. Mahuran, C. A. Brown, 1993, American journal of human genetics.

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

H. Willard, A. Lamhonwah, D. Mahuran, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Proteolytic processing of the proβ chain of β-hexosaminidase occurs at basic residues contained within an exposed disulfide loop structure

G. Vavougios, D. Mahuran, C. Sagherian, 1993 .

A rapid four column purification of 2-deoxy-D-glucoside-2-sulphamate sulphohydrolase from human liver.

J. Hopwood, D. Mahuran, P. Clements, 1983, Biochimica et biophysica acta.

Liquid chromatography/electrospray ionisation-tandem mass spectrometry quantification of GM2 gangliosides in human peripheral cells and plasma.

D. Mahuran, L. Hein, M. Fuller, 2014, Analytical biochemistry.

Identification of the hydrophobic glycoproteins of Caenorhabditis elegans.

Y. She, J. Callahan, H. Schachter, 2005, Glycobiology.

Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

Penny A. MacDonald, R. Bartha, M. Borrie, 2019, BMC Neurology.

Role of beta Arg211 in the active site of human beta-hexosaminidase B.

S. Withers, D. Vocadlo, D. Mahuran, 2000, Biochemistry.

Human mitochondrial propionyl-CoA carboxylase: localization of the N-terminus of the pro- and mature alpha chains in the deduced primary sequence of a full-length cDNA.

A. Lamhonwah, D. Mahuran, R. Gravel, 1989, Nucleic Acids Research.

A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside.

J. Callahan, D. Mahuran, S. Bukovac, 2003, Biochimica et biophysica acta.

Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.

D. Mahuran, C. A. Brown, 1991, The Journal of biological chemistry.

Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.

D. Mahuran, K. Neote, R. Gravel, 1989, The Journal of biological chemistry.

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.

H. Willard, B. O'dowd, R. Korneluk, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

S. Schuster, D. Mahuran, K. Neote, 1988, Genomics.

RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

J. Rilstone, C. Ackerley, I. Nishino, 2009, Cell.

Isolation and expression of a full-length cDNA encoding the human GM2 activator protein.

A. Lamhonwah, D. Mahuran, K. Neote, 1991, Biochemical and biophysical research communications.

The GM2 activator protein, a novel inhibitor of platelet-activating factor.

D. Mahuran, B. Rigat, D. Reynaud, 1999, Biochemical and biophysical research communications.

Characterization of the affinity of the G(M2) activator protein for glycolipids by a fluorescence dequenching assay.

D. Mahuran, B. Rigat, Wen Wang, 1997, Biochimica et biophysica acta.

Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.

J. Kennedy, D. Mahuran, D. Auger, 1992, Genomics.

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).

J. Clarke, D. Mahuran, E. Kolodny, 2011, Molecular genetics and metabolism.

Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cells.

W. Kriz, H. Heid, P. Mundel, 1999, Journal of the American Society of Nephrology : JASN.

Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A.

D. Mahuran, H. Deng, B. Rigat, 1998, Biochemistry.

Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.

H. Heng, L. Tsui, D. Mahuran, 1993, Genomics.

A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates.

W. Wakarchuk, D. Mahuran, M. Tropak, 2010, Glycobiology.

The GM2 activator protein does not play a critical role in endosome and lysosome membrane fusion.

D. Mahuran, B. Xie, 1994, Biochemical and biophysical research communications.

PstI RFLP in the human hexosaminidase (HEXB) gene on chromosome 5.

H. Willard, B. O'dowd, D. Mahuran, 1987, Nucleic acids research.

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

D. Mahuran, W. Wang, B. Xie, 1992, American journal of human genetics.

VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification (Retracted article. See vol. 142, pg. 984, 2010)

J. Rilstone, C. Ackerley, I. Nishino, 2009 .

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

H. Willard, B. O'dowd, D. Mahuran, 1986, The Journal of biological chemistry.

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.

D. Mahuran, C. A. Brown, R. D. de Kremer, 1992, Biochimica et biophysica acta.

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis.

H. J. Baker, J. Callahan, Bruce F. Smith, 2008, Molecular genetics and metabolism.

Novel Tay‐Sachs disease mutations from China

G. Vavougios, C. Scriver, D. Mahuran, 1992, Human mutation.

A method for proteomic identification of membrane-bound proteins containing Asn-linked oligosaccharides.

Y. She, J. Callahan, H. Schachter, 2004, Analytical biochemistry.

Examination of an area in beta-hexosaminidase B homologous to that in cathepsin D linked to lysosomal targeting.

D. Mahuran, C. Sagherian, 1991, Biochemical and biophysical research communications.

Synthesis, Kinetic Evaluation and Cell‐Based Analysis of C‐Alkylated Isofagomines as Chaperones of β‐Glucocerebrosidase

S. Withers, D. Mahuran, M. Tropak, 2011, Chembiochem : a European journal of chemical biology.

Discrimination of the isozymes of human placental hexosaminidase by kinetic parameter estimation.

D. Mahuran, J. Lowden, R. Tommasini, 1985, Canadian journal of biochemistry and cell biology = Revue canadienne de biochimie et biologie cellulaire.

Pyrimethamine Derivatives: Insight into Binding Mechanism and Improved Enhancement of Mutant β-N-acetylhexosaminidase Activity.

M. Ciufolini, D. Mahuran, M. Tropak, 2015, Journal of medicinal chemistry.

Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit

D. Mahuran, M. Tropak, I. Sinici, 2004, Journal of Inherited Metabolic Disease.

p-Hexosaminidase Isozymes from Cells Cotransfected with a and cDNA Constructs: Analysis of the a-Subunit Missense Mutation Associated with the Adult Form of Tay-Sachs Disease

C. Brown, D. Mahuran, 2006 .

Crystal structure of β-hexosaminidase B in complex with pyrimethamine, a potential pharmacological chaperone.

M. James, K. Bateman, D. Mahuran, 2011, Journal of medicinal chemistry.

Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β‐Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry

E. Brown, S. Tuske, G. Kornhaber, 2008, Chembiochem : a European journal of chemical biology.

Identification of functional domains within the alpha and beta subunits of beta-hexosaminidase A through the expression of alpha-beta fusion proteins.

G. Vavougios, D. Mahuran, A. Hinek, 1996, Biochemistry.

Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.

G. Vavougios, D. Mahuran, Y. Hou, 1996, Biochemistry.

Localization of the pro‐sequence within the total deduced primary structure of human β‐hexosaminidase B

J. Stirling, D. Mahuran, R. Gravel, 1988, FEBS letters.

Evidence for two dissimilar polypeptide chains in the beta 2 subunit of hexosaminidase.

F. Tsui, D. Mahuran, R. Gravel, 1982, Proceedings of the National Academy of Sciences of the United States of America.

Isofagomine Induced Stabilization of Glucocerebrosidase

S. Tuske, G. Kornhaber, Y. Hamuro, 2008, Chembiochem : a European journal of chemical biology.

A glycine250 → aspartate substitution in the α‐subunit of hexosaminidase a causes juvenile‐onset Tay‐Sachs disease in a Lebanese‐Canadian family

I. Trop, C. Brown, D. Mahuran, 1992 .

The Pro-Peptide of the Proβ-Polypeptide Chain of Human β-Hexosaminidase Is Necessary for Proper Protein Folding and Exit from the Endoplasmic Reticulum

D. Mahuran, P. Thorner, C. Sagherian, 1994 .

A statistical comparison of parameter estimation for the Michaelis-Menten kinetics of human placental hexosaminidase.

L. Endrenyi, D. Mahuran, L Endrenyi, 1985, Canadian journal of biochemistry and cell biology = Revue canadienne de biochimie et biologie cellulaire.

Cloning and sequence analysis of a cDNA encoding the beta-subunit of mouse beta-hexosaminidase.

D. Mahuran, K. Neote, R. Gravel, 1988, FEBS letters.

Improved concanavalin A-Sepharose elution by specific readsorption of glycoproteins.

J. Hopwood, D. Mahuran, P. Clements, 1983, Journal of chromatography.

I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.

L. Hermo, H. Adamali, J. Trasler, 1999, Journal of andrology.

Tailoring the specificity and reactivity of a mechanism-based inactivator of glucocerebrosidase for potential therapeutic applications.

S. Withers, D. Mahuran, M. Tropak, 2011, Angewandte Chemie.

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.

P. Thompson, S. Gray, B. Mark, 2016, Human gene therapy.

Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

J. Rilstone, C. Ackerley, I. Nishino, 2010, Cell.

Crystallographic Structure of Human b -Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of G M2 Ganglioside Hydrolysis

D. Mahuran, M. Cherney, B. Mark, 2022 .

GM2 activator protein inhibits platelet activating factor signaling in rats.

H. Yeger, D. Mahuran, B. Rigat, 2009, Biochemical and biophysical research communications.

Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.

D. Mahuran, 1995, Clinical biochemistry.