PMC Links for OMIM (Select 613109) - PMC

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Items: 6

Select item 45024261.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. A. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer

Tremor Other Hyperkinet Mov (N Y) 2015; 5: 306. Published online 2015 Jul 9. doi: 10.7916/D8D21WQ0

PMCID:: PMC4502426

Abstract Article PDF–996K

Select item 19148212.

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

Summary Page Browse PDF–1.8M

Select item 16857373.

Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine.

Y T Li, I A Muhiudeen, R DeGasperi, Y Hirabayashi, S C Li

Am J Hum Genet. 1983 Jul; 35(4): 629–634.

PMCID:: PMC1685737

Summary Page Browse PDF–505K

Select item 16825934.

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

B Xie, W Wang, D J Mahuran

Am J Hum Genet. 1992 May; 50(5): 1046–1052.

PMCID:: PMC1682593

Summary Page Browse PDF–1.4M

Select item 13780775.

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

Summary PDF–536K

Select item 215706.

Mouse model of G_M2activator 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