Don J. Mahuran - Publications, H-index & Citations

Don J. Mahuran

hospital for sick children (sickkids)

47H指数

251论文数

8.2K被引数

收录论文 48

发表时间

Letter to the Editor

MOLECULAR THERAPY

IF12

2021-01-01

OAAI

Mark, Brian L.; Mahuran, Don

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

JOURNAL OF MEDICINAL CHEMISTRY

IF6.8

2015-06-02

PREAI

Tropak, Michael B.; Zhang, Jianmin; Yonekawa, Sayuri; Rigat, Brigitte A.; Aulakh, Virender S.; Smith, Matthew R.; Hwang, Hee-Jong; Ciufolini, Marco A.; Mahuran, Don J.

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

MOLECULAR THERAPY

IF12

2015-05-01

OAAI

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

Improved Reduction in GM2 Ganglioside Accumulation in Tay-Sachs Mice Using a New Hexosaminidase Variant

MOLECULAR THERAPY

IF12

2015-05-01

OAAI

Karumuthil-Melethil, Subha; Thompson, Patrick; Walia, Jagdeep S.; Mark, Brian; Mahuran, Don; Gray, Steven J.

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2014-05-20

OAAI

Renvoise, Benoit; Chang, Jaerak; Singh, Rajat; Yonekawa, Sayuri; FitzGibbon, Edmond J.; Mankodi, Ami; Vanderver, Adeline; Schindler, Alice B.; Toro, Camilo; Gahl, William A.; Mahuran, Don J.; Blackstone, Craig; Pierson, Tyler Mark

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

JOURNAL OF ORGANIC CHEMISTRY

IF3.6

2014-04-28

PREAI

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.

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

ACTA NEUROPATHOLOGICA

IF9.3

2013-01-12

121

PREAI

Ramachandran, Nivetha; Munteanu, Iulia; Wang, Peixiang; Ruggieri, Alessandra; Rilstone, Jennifer J.; Israelian, Nyrie; Naranian, Taline; Paroutis, Paul; Guo, Ray; Ren, Zhi-Ping; Nishino, Ichizo; Chabrol, Brigitte; Pellissier, Jean-Francois; Minetti, Carlo; Udd, Bjarne; Fardeau, Michel; Tailor, Chetankumar S.; Mahuran, Don J.; Kissel, John T.; Kalimo, Hannu; Levy, Nicolas; Manolson, Morris F.; Ackerley, Cameron A.; Minassian, Berge A.

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase 由 β-己糖胺酶的新突变引起的青少年型运动神经元疾病

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-01-01

OAAI

Pierson, Tyler Mark; Torres, Paola A.; Zeng, Bei-Jin; Glanzman, Allan M.; Adams, David; Finkel, Richard S.; Mahuran, Don J.; Pastores, Gregory M.; Tennekoon, Gihan I.; Kolodny, Edwin H.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-09-01

OAAI

Rigat, Brigitte A.; Tropak, Michael B.; Buttner, Justin; Crushell, Ellen; Benedict, Daphne; Callahan, John W.; Martin, Douglas R.; Mahuran, Don J.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-07-01

OAAI

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

Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol-Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease

JOURNAL OF MEDICINAL CHEMISTRY

IF6.8

2012-03-06

OAAI

Goddard-Borger, Ethan D.; Tropak, Michael B.; Yonekawa, Sayuri; Tysoe, Christina; Mahuran, Don J.; Withers, Stephen G.

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

GLYCOBIOLOGY

IF3.3

2011-11-07

OAAI

He, Xu; Galpin, Jason D.; Tropak, Michael B.; Mahuran, Don; Haselhorst, Thomas; von Itzstein, Mark; Kolarich, Daniel; Packer, Nicolle H.; Miao, Yansong; Jiang, Liwen; Grabowski, Gregory A.; Clarke, Lorne A.; Kermode, Allison R.

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

ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

IF16.9

2011-09-13

PREAI

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

Clinical follow-up of Niemann-Pick disease type C patients, natural history and the importance of the disability scale assessing neurological disease progression

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-02-01

PREAI

Badilla-Porras, Ramses; Saleh, Maha; Mahuran, Don; Rigat, Brigitte; Clarke, J. T. R.; Mackrell, Margaret; Raiman, Julian