Results 101 to 110 of about 2,912 (144)

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. [PDF]

Nat Med
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR.   +35 more
europepmc   +1 more source

Biochemical consequences of mutations causing the GM2 gangliosidoses [PDF]

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 1999
The hydrolysis of GM2-ganglioside is unusual in its requirements for the correct synthesis, processing, and ultimate combination of three gene products. Whereas two of these proteins are the alpha- (HEXA gene) and beta- (HEXB) subunits of beta-hexosaminidase A, the third is a small glycolipid transport protein, the GM2 activator protein (GM2A), which ...
Don J Mahuran
exaly   +4 more sources

The GM2 Gangliosidoses

, 2007
In this group of conditions, GM2 ganglioside and related compounds accumulate in lysosomes due to enzymatic deficiencies in their degradation pathways. Their typical presentation is that of a pure neurodegenerative disorder characterized by developmental
Gustavo A. Charria-Ortiz, Charria-Ortiz, Gustavo A.   +1 more
exaly   +3 more sources

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Nomenclature of GM2–gangliosidoses

Clinical Genetics, 1980
As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2–gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses.
S Nørby
exaly   +3 more sources

GM2 gangliosidoses: Consideration of the genetic defects

Lancet, The, 1971
A D Bain
exaly   +5 more sources

Serial 1H-MRS in GM2 gangliosidoses

European Journal of Pediatrics, 2007
GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites including N-acetyl aspartate+N-acetyl aspartate glutamate (
Christopher Janson
exaly   +3 more sources

GM2 Gangliosidoses

2010
The GM2 gangliosidoses represent a heterogeneous group of lysosomal storage diseases characterised by the deposition of GM2 ganglioside and related glycolipids. They are inherited in an autosomal recessive manner. The basis for the various forms of GM2 gangliosidoses lies in the multifaceted catabolism of GM2 ganglioside, which requires complex ...
Margit Pavelka, Jürgen Roth
openaire   +1 more source

Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies

Clinica Chimica Acta, 2007
GM2 gangliosidoses, including Tay-Sachs disease, Sandhoff disease and the AB variant, comprise deficiencies of beta-hexosaminidase isozymes and GM2 ganglioside activator protein associated with accumulation of GM2 ganglioside (GM2) in lysosomes and neurosomatic clinical manifestations.
Kohji Itoh, Daisuke Tsuji
exaly   +3 more sources