Results 111 to 120 of about 2,912 (167)
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: Unlocking the mysteries of pathogenesis and treatment
Neuroscience Letters, 2021 Camilo Toro +2 more
exaly +3 more sources
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB [PDF]
FEBS Letters, 1991 GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the β-hexosaminidase A or the GM2 activator, a glycolipid binding protein.
Konrad Sandhoff
exaly +2 more sources
Genetics and Therapies for GM2 Gangliosidosis [PDF]
Current Gene Therapy, 2018 Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described.
Maria Begoña Cachon-Gonzalez +1 more
exaly +4 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Serial 1H-MRS in GM2 gangliosidoses
European Journal of Pediatrics, 2007GM2 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 (
Mitra, Assadi +5 more
openaire +2 more sources
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
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
Nomenclature of GM2–gangliosidoses
Clinical Genetics, 1980As 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.
openaire +2 more sources
2016
GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency.
Emmanuel Roze, Frédéric Sedel
openaire +1 more source
GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency.
Emmanuel Roze, Frédéric Sedel
openaire +1 more source
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies
Clinica Chimica Acta, 2007GM2 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