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1

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

Brian L. Mark, Don J. Mahuran, Maia M. Cherney, Dalian Zhao, Spencer Knapp, Michael N.G. James

Journal:

Journal of Molecular Biology

Year:

2003

Language:

english

File:

PDF, 2.23 MB

english, 2003

2

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

Richard F.G. Fröhlich, Richard H. Furneaux, Don J. Mahuran, Robert Saf, Arnold E. Stütz, Michael B. Tropak, Jacqueline Wicki, Stephen G. Withers, Tanja M. Wrodnigg

Journal:

Carbohydrate Research

Year:

2011

Language:

english

File:

PDF, 598 KB

english, 2011

3

Crystallographic Structure of Human β-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of GM2 Ganglioside Hydrolysis

M. Joanne Lemieux, Brian L. Mark, Maia M. Cherney, Stephen G. Withers, Don J. Mahuran, Michael N.G. James

Journal:

Journal of Molecular Biology

Year:

2006

Language:

english

File:

PDF, 2.29 MB

english, 2006

4

The subunit and polypeptide structure of hexosaminidases from human placenta

Mahuran, D., Lowden, J. A.

Journal:

Canadian Journal of Biochemistry

Year:

1980

Language:

english

File:

PDF, 623 KB

english, 1980

5

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

Pasternak, Stephen Howard, Callahan, John William, Mahuran, Don Joseph

Journal:

Journal of Alzheimer's Disease

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

6

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

Richard F.G. Fröhlich, Richard H. Furneaux, Don J. Mahuran, Brigitte A. Rigat, Arnold E. Stütz, Michael B. Tropak, Jacqueline Wicki, Stephen G. Withers, Tanja M. Wrodnigg

Journal:

Carbohydrate Research

Year:

2010

Language:

english

File:

PDF, 480 KB

english, 2010

7

[Advances in Genetics] Tay-Sachs Disease Volume 44 || 13. The β-hexosaminidase story in Toronto: From enzyme structure to gene mutation

Mahuran, Don J.

Year:

2001

Language:

english

File:

PDF, 10.85 MB

english, 2001

8

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

Young-Wan Kim, Hong-Ming Chen, Jin Hyo Kim, Johannes Müllegger, Don Mahuran, Stephen G. Withers

Journal:

Year:

2007

Language:

english

File:

PDF, 107 KB

english, 2007

9

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

Isabelle Trop, Feige Kaplan, Charlotte Brown, Don Mahuran, Peter Hechtman

Journal:

Year:

1992

Language:

english

File:

PDF, 407 KB

english, 1992

10

High-Throughput Screening for Human Lysosomal β-N-Acetyl Hexosaminidase Inhibitors Acting as Pharmacological Chaperones

Michael B. Tropak, Jan E. Blanchard, Stephen G. Withers, Eric D. Brown, Don Mahuran

Journal:

Chemistry & Biology

Year:

2007

Language:

english

File:

PDF, 714 KB

english, 2007

11

Refined Mapping of the GM2 Activator Protein (GM2A) Locus to 5q31.3-q33.1, Distal to the Spinal Muscular Atrophy Locus

Henry H.Q. Heng, Bei Xie, Xiao-Mei Shi, Lap-Chee Tsui, Don J. Mahuran

Journal:

Year:

1993

File:

PDF, 244 KB

1993

12

Identification of Functional Domains within the α and β Subunits of β-Hexosaminidase A through the Expression of α−β Fusion Proteins †

Tse, Roderick, Wu, Yong Jian, Vavougios, George, Hou, Yongmin, Hinek, Aleksander, Mahuran, Don J.

Journal:

Year:

1996

Language:

english

File:

PDF, 464 KB

english, 1996

13

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

Mahuran, D. J., Tsui, F., Gravel, R. A., Lowden, J. A.

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 1.08 MB

english, 1982

14

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.

Lamhonwah, A. M., Barankiewicz, T. J., Willard, H. F., Mahuran, D. J., Quan, F., Gravel, R. A.

Journal:

Proceedings of the National Academy of Sciences

Year:

1986

Language:

english

File:

PDF, 1.19 MB

english, 1986

15

Encyclopedia of Life Sciences || Tay-Sachs Disease

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

16

Characterization by nuclear magnetic resonance of the concanavalin A binding oligosaccharide on the β b chain of placental β-hexosaminidase B: lectin binding to the separated polypeptide chains of hexosaminidases A and B

O'dowd, Brian F., Mahuran, Don, Cumming, Dale, Lowden, J. Alexander

Journal:

Biochemistry and Cell Biology

Year:

1985

Language:

english

File:

PDF, 511 KB

english, 1985

17

Novel Tay-Sachs disease mutations from China

N. Akalin, H.-P. Shi, G. Vavougios, P. Hechtman, W. Lo, C. R. Scriver, D. Mahuran, F. Kaplan

Journal:

Year:

1992

Language:

english

File:

PDF, 538 KB

english, 1992

18

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

Journal:

Clinical Biochemistry

Year:

1995

File:

PDF, 599 KB

1995

19

83. The effects of altering calcium homeostasis on mutant enzyme activity in chronic Tay-Sachs disease and Gaucher disease patient cells treated with pharmacological chaperones

Don Mahuran, Brigitte Rigat

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

20

Biochemical consequences of mutations causing the GM2 gangliosidoses

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1999

Language:

english

File:

PDF, 570 KB

english, 1999

21

I. Abnormalities in Cells of the Testis, Efferent Ducts, and Epididymis in Juvenile and Adult Mice with β-Hexosaminidase A and B Deficiency

H. I. ADAMALI, I. H. SOMANI, J.-Q. HUANG, D. MAHURAN, R. A. GRAVEL, J. M. TRASLER, Dr. L. HERMO

Journal:

Journal of Andrology

Year:

1999

Language:

english

File:

PDF, 5.56 MB

english, 1999

22

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

Siriwardena, Aloysius, Sonawane, Dhiraj P., Bande, Omprakash P., Markad, Pramod R., Yonekawa, Sayuri, Tropak, Michael B., Ghosh, Sougata, Chopade, Balu A., Mahuran, Don J., Dhavale, Dilip D.

Journal:

Journal of Organic Chemistry

Year:

2014

Language:

english

File:

PDF, 562 KB

english, 2014

23

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

Schachter, H., Chen, S., Callahan, J.W., Mahuran, D.J., Spence, A.M.

Journal:

Biochemical Society Transactions

Year:

2002

Language:

english

File:

PDF, 129 KB

english, 2002

24

Impaired Glucose Tolerance in a Mouse Model of Sidt2 Deficiency

Gao, Jialin, Gu, Xuefan, Mahuran, Don J., Wang, Zhugang, Zhang, Huiwen, Miele, Claudia

Journal:

Year:

2013

Language:

english

File:

PDF, 3.38 MB

english, 2013

25

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

Louis Hermo, Huzaifa I. Adamali, Don Mahuran, Roy A. Gravel, Jacquetta M. Trasler

Journal:

Molecular Reproduction and Development

Year:

1997

Language:

english

File:

PDF, 1.56 MB

english, 1997

26

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

John Stirling, Amy Leung, Roy A. Gravel, Don Mahuran

Journal:

Year:

1988

Language:

english

File:

PDF, 537 KB

english, 1988

27

135. Identification of pyrimethamine derivatives showing improved enzyme enhancement efficacy towards mutant Hex A

Michael Tropak, Sayuri Yonekawa, Jianmin Zhang, Kam Ho, Virender Aulakh, Marco Ciufolini, Don Mahuran

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

28

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

Gholamreza Babajani, Michael B. Tropak, Don J. Mahuran, Allison R. Kermode

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 493 KB

english, 2012

29

Nicastrin is a resident lysosomal membrane protein

Richard D Bagshaw, Stephen H Pasternak, Don J Mahuran, John W Callahan

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

30

II. Characterization and Development of the Regional- and Cellular-Specific Abnormalities in the Epididymis of Mice with β-Hexosaminidase A Deficiency

H. I. ADAMALI, I. H. SOMANI, J.-Q. HUANG, D. MAHURAN, R. A. GRAVEL, J. M. TRASLER, Dr. L. HERMO

Journal:

Journal of Andrology

Year:

1999

Language:

english

File:

PDF, 5.62 MB

english, 1999

31

Identification of an Active Acidic Residue in the Catalytic Site of β-Hexosaminidase †

Tse, Roderick, Vavougios, George, Hou, Yongmin, Mahuran, Don J.

Journal:

Year:

1996

Language:

english

File:

PDF, 488 KB

english, 1996

32

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

O'Dowd, B. F., Quan, F., Willard, H. F., Lamhonwah, A. M., Korneluk, R. G., Lowden, J. A., Gravel, R. A., Mahuran, D. J.

Journal:

Proceedings of the National Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 1.31 MB

english, 1985

33

Tailoring the Specificity and Reactivity of a Mechanism-Based Inactivator of Glucocerebrosidase for Potential Therapeutic Applications

Brian P. Rempel, Dr. Michael B. Tropak, Dr. Don J. Mahuran, Prof. Stephen G. Withers

Journal:

Angewandte Chemie

Year:

2011

Language:

english

File:

PDF, 372 KB

english, 2011

34

A619→G substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism

Isabelle Redonnet-Vernhet, Martine Chatelut, Louis Buscail, Don J. Mahuran, Robert Salvayre, Thierry Levade

Journal:

Year:

1998

Language:

english

File:

PDF, 228 KB

english, 1998

35

19 Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis

Don Mahuran, Gustavo Maegawa, Michael Tropak, Joe Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

36

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

O'Dowd, Brian F., Cumming, Dale A., Gravel, Roy A., Mahuran, Don

Journal:

Year:

1988

Language:

english

File:

PDF, 1.61 MB

english, 1988

37

Tailoring the Specificity and Reactivity of a Mechanism-Based Inactivator of Glucocerebrosidase for Potential Therapeutic Applications

Brian P. Rempel, Dr. Michael B. Tropak, Dr. Don J. Mahuran, Prof. Stephen G. Withers

Journal:

Angewandte Chemie International Edition

Year:

2011

Language:

english

File:

PDF, 355 KB

english, 2011

38

The GM2 Activator Protein Does Not Play a Critical Role in Endosome and Lysosome Membrane Fusion

B. Xie, D. Mahuran

Journal:

Biochemical and Biophysical Research Communications

Year:

1994

File:

PDF, 227 KB

1994

39

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

Bharati Bapat, Marguerite Ethier, Kuldeep Neote, Don Mahuran, Roy A. Gravel

Journal:

Year:

1988

Language:

english

File:

PDF, 445 KB

english, 1988

40

Quantification of the Intensity of Filipin Fluorescence as a Diagnostic Test for Niemann-Pick Disease Type C

Brigitte Rigat, Christopher Fladd, Julian Raiman, Joe Clarke, John Callahan, Don Mahuran

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

41

A rare insertion/deletion polymorphism at the HEXA locus

Neote, K., Bapat, B., Mahuran, D., Gravel, R.A.

Journal:

Nucleic Acids Research

Year:

1991

Language:

english

File:

PDF, 1.33 MB

english, 1991

42

Improved purification of β-galactosidase from rabbit brain: two separable fractions share kinetic and structural properties

Fraser, Nancy L., Mahuran, Donald, Freeman, Stuart J., Callahan, John W.

Journal:

Biochemistry and Cell Biology

Year:

1983

Language:

english

File:

PDF, 852 KB

english, 1983

43

Improved concanavalin a-sepharose elution by specific readsorption of glycoproteins

Peter R. Clements, Don J. Mahuran, John J. Hopwood

Journal:

Journal of Chromatography A

Year:

1983

Language:

english

File:

PDF, 410 KB

english, 1983

44

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

Don J. Mahuran, Barbara L. Triggs-Raine, Annette J. Feigenbaum, Roy A. Gravel

Journal:

Clinical Biochemistry

Year:

1990

Language:

english

File:

PDF, 777 KB

english, 1990

45

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

Maryam Zarghooni, Scott Bukovac, Michael Tropak, John Callahan, Don Mahuran

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 284 KB

english, 2004

46

Purification and properties of a diketo acid hydrolase from beef liver

Hsiang, H. H., Sim, S. S., Mahuran, D. J., Schmidt, Donald E.

Journal:

Year:

1972

Language:

english

File:

PDF, 1.28 MB

english, 1972

47

711. Intravenous Neonatal Gene Therapy Corrects GM2 Gangliosidosis in Sandhoff Mice for Long-Term, By Using AAV Viral Vector Expressing a New Hexosaminidase Variant

Osmon, Karlaina J.L., Woodley, Evan, Thompson, Patrick, Ong, Katalina, Karumuthil-Melethil, Subha, Mark, Brian, Mahuran, Don, Gray, Steven J., Walia, Jagdeep S.

Journal:

Molecular Therapy

Year:

2015

Language:

english

File:

PDF, 322 KB

english, 2015

48

Comparison of HCMV IE and EF-1 Promoters for the Stable Expression of β-Subunit of Hexosaminidase in CHO Cell Lines

Incilay Sinici, Maryam Zarghooni, Michael B. Tropak, Don J. Mahuran, H. Asuman Özkara

Journal:

Biochemical Genetics

Year:

2006

Language:

english

File:

PDF, 214 KB

english, 2006

49

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

Michael B. Tropak, Don Mahuran

Journal:

Year:

2007

Language:

english

File:

PDF, 516 KB

english, 2007

50

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)

Joe T.R. Clarke, Don J. Mahuran, Swati Sathe, Edwin H. Kolodny, Brigitte A. Rigat, Julian A. Raiman, Michael B. Tropak

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 340 KB

english, 2011

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