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Items: 10

1.
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
M G Ribeiro, T Sonin, R A Pinto, A Fontes, H Ribeiro, E Pinto, M M Palmeira, M C Sá Miranda
J Med Genet. 1996 Apr; 33(4): 341–343. doi: 10.1136/jmg.33.4.341
PMCID:
PMC1050588
SummaryPage BrowsePDF–930K
2.
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
B H Paw, M M Kaback, E F Neufeld
Proc Natl Acad Sci U S A. 1989 Apr; 86(7): 2413–2417. doi: 10.1073/pnas.86.7.2413
Correction in:
Proc Natl Acad Sci U S A. 1989 Jul; 86(14): 5625.
PMCID:
PMC286923
SummaryPage BrowsePDF–1.3M
3.
Pharmacological Enhancement of β-Hexosaminidase Activity in Fibroblasts from Adult Tay-Sachs and Sandhoff Patients
Michael B. Tropak, Stephen P. Reid, Marianne Guiral, Stephen G. Withers, Don Mahuran
J Biol Chem. Author manuscript; available in PMC 2010 Jul 15.
Published in final edited form as: J Biol Chem. 2004 Apr 2; 279(14): 13478–13487. Published online 2004 Jan 14. doi: 10.1074/jbc.M308523200
PMCID:
PMC2904802
AbstractArticlePDF–875K
4.
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
B H Paw, P T Tieu, M M Kaback, J Lim, E F Neufeld
Am J Hum Genet. 1990 Oct; 47(4): 698–705.
PMCID:
PMC1683802
SummaryPage BrowsePDF–1.1M
5.
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
B H Paw, L C Wood, E F Neufeld
Am J Hum Genet. 1991 Jun; 48(6): 1139–1146.
PMCID:
PMC1683090
SummaryPage BrowsePDF–1.4M
6.
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
H Schnorf, R Gitzelmann, N U Bosshard, M Spycher, W Waespe
J Neurol Neurosurg Psychiatry. 1995 Nov; 59(5): 520–523. doi: 10.1136/jnnp.59.5.520
PMCID:
PMC1073716
SummaryPage BrowsePDF–990K
7.
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy
Debra S. Regier, Richard L. Proia, Alessandra D’Azzo, Cynthia J. Tifft
Pediatr Endocrinol Rev. Author manuscript; available in PMC 2021 Jun 8.
Published in final edited form as: Pediatr Endocrinol Rev. 2016 Jun; 13(Suppl 1): 663–673.
PMCID:
PMC8186028
AbstractArticlePDF–1024K
8.
GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease
Seçil Akyıldız Demir, Zehra Kevser Timur, Nurselin Ateş, Luis Alarcón Martínez, Volkan Seyrantepe
J Neuroinflammation. 2020; 17: 277. Published online 2020 Sep 20. doi: 10.1186/s12974-020-01947-6
PMCID:
PMC7504627
AbstractArticlePDF–13M
9.
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
Mol Genet Metab. Author manuscript; available in PMC 2011 Jan 11.
Published in final edited form as: Mol Genet Metab. 2011 Jan; 102(1): 6–12. Published online 2010 Sep 17. doi: 10.1016/j.ymgme.2010.09.004
PMCID:
PMC3019177
AbstractArticlePDF–745K
10.
Lending a helping hand, screening chemical libraries for compounds that enhance β-hexosaminidase A activity in GM2 gangliosidosis cells
Michael B. Tropak, Don Mahuran
FEBS J. Author manuscript; available in PMC 2010 Jul 27.
Published in final edited form as: FEBS J. 2007 Oct; 274(19): 4951–4961. doi: 10.1111/j.1742-4658.2007.06040.x
PMCID:
PMC2910757
AbstractArticlePDF–774K

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