Results 91 to 100 of about 2,137 (206)

AAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival [PDF]

, 2010
Background: GM1-gangliosidosis is a glycosphingolipid (GSL) lysosomal storage disease caused by a genetic deficiency of acid β-galactosidase (βgal), which results in the accumulation of GM1-ganglioside and its asialo-form (GA1) primarily in the CNS.
Baek, Rena C., Broekman, Marike L. D., d'Azzo, Alessandra, Leroy, Stanley G., Sandberg, Michael Arthur, Sena-Esteves, Miguel, Seyfried, Thomas N., Tierney, Laryssa A.   +7 more
core   +4 more sources

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]

, 2016
GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
00184656, 00423400, 10943/profile-ja.html, 166, 202, Hirokawa, Takatsugu, Itou, Kouji, Kitakaze, Keisuke, Sakuraba, Hitoshi, Tajima, Youichi, Tasaki, Chikako, Tsuji, Daisuke, イトウ, コウジ, キタカゼ, ケイスケ, キタカゼ, ケイスケ, サクラバ, ヒトシ, サクラバ, ヒトシ, タサキ, チカコ, タサキ, チカコ, タジマ, ヨウイチ, タジマ, ヨウイチ, ツジ, ダイスケ, ヒロカワ, タカツグ, ヒロカワ, タカツグ, 伊藤, 孝司, 辻, 大輔   +25 more
core  

Animal models of GM2 gangliosidosis: utility and limitations

The Application of Clinical Genetics, 2016
Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR
doaj  

Gangliosidoses [PDF]

Biochemical Journal, 1969
openaire   +2 more sources

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and electroencephalography [PDF]

ObjectivesGangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits.
Ahmad Abadi, Farzad, Ebrahimi, Masoomah, Etemad, Korosh, Hosseini Nezhad, Zahra, Karimzadeh, Parvaneh   +4 more
core   +1 more source

Quantitative longitudinal natural history of eight gangliosidoses - conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.

medRxiv, 2022
M. Ries, Grecia Mendoza, Laila Arash-Kaps, Yasmina Amraoui, Folker Quack, Brigitte, Hardt, S. Diederich, M. Beck, E. Mengel   +9 more
semanticscholar   +1 more source

New Approaches to Correcting Metabolic Errors in Tay-Sachs [PDF]

, 2016
Tay-Sachs Disease (TSD) is a neurodegenerative disorder categorized as both a gangliosidosis and a lysosomal storage disease. Tay-Sachs is caused by a deficiency in the enzyme ?-hexosaminidase A (Hex A).
Stefanski, Katherin
core   +1 more source

Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.

Genetics in Medicine, 2022
Markus Ries, Grecia Mendoza, Laila Arash-Kaps, Yasmina Amraoui, Folker Quack, Brigitte Hardt, S. Diederich, Michael Beck, Eugen Mengel   +8 more
semanticscholar   +1 more source

Molecular Therapy for Lysosomal Storage Diseases [PDF]

, 2013
Itoh, Kohji, Tsuji, Daisuke
core   +2 more sources

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report. [PDF]

Front Pediatr, 2023
Chen Q, Lu F.
europepmc   +1 more source