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Items: 18

1.
Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis
Meera Vyas, Natalie M. Deschenes, Karlaina J. L. Osmon, Zhilin Chen, Imtiaz Ahmad, Shalini Kot, Patrick Thompson, Chris Richmond, Steven J. Gray, Jagdeep S. Walia
Int J Mol Sci. 2023 Oct; 24(19): 14611. Published online 2023 Sep 27. doi: 10.3390/ijms241914611
PMCID:
PMC10572999
AbstractArticlePDF–3.2M
2.
Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
Natalie M. Deschenes, Camilyn Cheng, Alex E. Ryckman, Brianna M. Quinville, Prem Khanal, Melissa Mitchell, Zhilin Chen, Waheed Sangrar, Steven J. Gray, Jagdeep S. Walia
Int J Mol Sci. 2023 Jun; 24(11): 9217. Published online 2023 May 24. doi: 10.3390/ijms24119217
PMCID:
PMC10253223
AbstractArticlePDF–3.0M
3.
Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report
Qin Chen, Fang Lu
Front Pediatr. 2023; 11: 1147836. Published online 2023 May 5. doi: 10.3389/fped.2023.1147836
PMCID:
PMC10196110
AbstractArticlePDF–6.3M
4.
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A
Patricia L. Hall, Regina Laine, John J. Alexander, Arunkanth Ankala, Lisa A. Teot, Hart G. W. Lidov, Irina Anselm
JIMD Rep. 2018; 38: 61–65. Published online 2017 May 25. doi: 10.1007/8904_2017_31
PMCID:
PMC5874204
AbstractArticlePDF–286K
5.
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
Deborah Renaud, Michael Brodsky
JIMD Rep. 2016; 25: 83–86. Published online 2015 Jun 17. doi: 10.1007/8904_2015_469
PMCID:
PMC5059184
AbstractArticlePDF–142K
6.
GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah
BMC Pediatr. 2016; 16: 88. Published online 2016 Jul 11. doi: 10.1186/s12887-016-0626-6
PMCID:
PMC4939586
AbstractArticlePDF–722K
7.
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.
U. Schepers, G. Glombitza, T. Lemm, A. Hoffmann, A. Chabas, P. Ozand, K. Sandhoff
Am J Hum Genet. 1996 Nov; 59(5): 1048–1056.
PMCID:
PMC1914821
SummaryPage BrowsePDF–1.8M
8.
Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis
Natalie M. Deschenes, Camilyn Cheng, Prem Khanal, Brianna M. Quinville, Alex E. Ryckman, Melissa Mitchell, Alexey V. Pshezhetsky, Jagdeep S. Walia
Front Mol Neurosci. 2023; 16: 1242814. Published online 2023 Nov 30. doi: 10.3389/fnmol.2023.1242814
PMCID:
PMC10720325
AbstractArticlePDF–2.4M
9.
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
Vykuntaraju K. Gowda, Priya Gupta, Narmadham K. Bharathi, Maya Bhat, Sanjay K. Shivappa, Naveen Benakappa
J Pediatr Genet. 2022 Mar; 11(1): 34–41. Published online 2020 Oct 19. doi: 10.1055/s-0040-1718726
PMCID:
PMC8847056
AbstractArticlePDF–263K
10.
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment
Yujing Liu, Alexander Hoffmann, Alexander Grinberg, Heiner Westphal, Michael P. McDonald, Katherine M. Miller, Jacqueline N. Crawley, Konrad Sandhoff, Kinuko Suzuki, Richard L. Proia
Proc Natl Acad Sci U S A. 1997 Jul 22; 94(15): 8138–8143. doi: 10.1073/pnas.94.15.8138
PMCID:
PMC21570
AbstractArticlePDF–822K
11.
Gene Therapy of Sphingolipid Metabolic Disorders
Alisa A. Shaimardanova, Valeriya V. Solovyeva, Shaza S. Issa, Albert A. Rizvanov
Int J Mol Sci. 2023 Feb; 24(4): 3627. Published online 2023 Feb 11. doi: 10.3390/ijms24043627
PMCID:
PMC9964151
AbstractArticlePDF–755K
12.
CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors
Andrés Felipe Leal, Javier Cifuentes, Valentina Quezada, Eliana Benincore-Flórez, Juan Carlos Cruz, Luis Humberto Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz
Int J Mol Sci. 2022 Sep; 23(18): 10672. Published online 2022 Sep 14. doi: 10.3390/ijms231810672
PMCID:
PMC9505638
AbstractArticlePDF–3.3M
13.
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
Andrés Felipe Leal, Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael Guillermo Garzón Jaramillo, Olga Yaneth Echeverri-Peña, Diego A. Suarez, Carlos Javier Alméciga-Díaz, Angela Johana Espejo-Mojica
Int J Mol Sci. 2020 Sep; 21(17): 6213. Published online 2020 Aug 27. doi: 10.3390/ijms21176213
PMCID:
PMC7503724
AbstractArticlePDF–2.8M
14.
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
Incilay Sinici, Sayuri Yonekawa, Ilona Tkachyova, Steven J. Gray, R. Jude Samulski, Warren Wakarchuk, Brian L. Mark, Don J. Mahuran
PLoS One. 2013; 8(3): e57908. Published online 2013 Mar 4. doi: 10.1371/journal.pone.0057908
PMCID:
PMC3587417
AbstractArticlePDF–342K
15.
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
J Mol Biol. Author manuscript; available in PMC 2010 Jul 26.
Published in final edited form as: J Mol Biol. 2006 Jun 16; 359(4): 913–929. Published online 2006 Apr 27. doi: 10.1016/j.jmb.2006.04.004
PMCID:
PMC2910082
AbstractArticlePDF–2.1M
16.
Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates.
Y T Li, Y Hirabayashi, S C Li
Am J Hum Genet. 1983 May; 35(3): 520–522.
PMCID:
PMC1685642
SummaryPage BrowsePDF–273K
17.
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.
B Chen, B Rigat, C Curry, D J Mahuran
Am J Hum Genet. 1999 Jul; 65(1): 77–87. doi: 10.1086/302463
PMCID:
PMC1378077
SummaryPDF–536K
18.
Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice.
F Norflus, C J Tifft, M P McDonald, G Goldstein, J N Crawley, A Hoffmann, K Sandhoff, K Suzuki, R L Proia
J Clin Invest. 1998 May 1; 101(9): 1881–1888. doi: 10.1172/JCI2127
PMCID:
PMC508774
SummaryPDF–492K

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