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searching for Glucocerebrosidase 15 found (45 total)

Dimitri Krainc (1,351 words) [view diff] exact match in snippet view article find links to article

Silverman, R.B. and Krainc, D.(2019) Direct targeting of wild type glucocerebrosidase improves pathogenic phenotypes in multiple forms of Parkinson’s disease

GBAP (gene) (388 words) [view diff] exact match in snippet view article

Beutler E, West C, Gelbart T (1992). "Polymorphisms in the human glucocerebrosidase gene". Genomics. 12 (4): 795–800. doi:10.1016/0888-7543(92)90311-F

Lactosylceramide (649 words) [view diff] exact match in snippet view article find links to article

a sphingolipidosis described by a particular inadequacy in acidic glucocerebrosidase, which results in abnormal gathering of glucosylceramide essentially

Roscoe Brady (1,155 words) [view diff] exact match in snippet view article find links to article

1960; 235: 3099–3103. Brady RO, Kanfer JN, Shapiro, D. Metabolism of glucocerebrosidase. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem

MTX1 (723 words) [view diff] exact match in snippet view article find links to article

(May 1995). "Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications

Lysosomal storage disease (1,831 words) [view diff] exact match in snippet view article find links to article

recently been shown to increase activity of the lysosomal enzyme glucocerebrosidase, so it may be a useful therapeutic agent for both Gaucher disease

Stefan Karlsson (professor) (1,009 words) [view diff] exact match in snippet view article

PH; Perry, LK; Brady, RO; Karlsson, S (March 1990). "Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic

SCAMP3 (567 words) [view diff] exact match in snippet view article find links to article

1997). "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease". Genome

Thrombospondin 3 (823 words) [view diff] exact match in snippet view article find links to article

1997). "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease". Genome

New England Enzyme Center (476 words) [view diff] exact match in snippet view article find links to article

"Gaucher disease: Isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue". Proceedings of the National Academy of

CLK2 (948 words) [view diff] exact match in snippet view article find links to article

1997). "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease". Genome

Ellen Sidransky (475 words) [view diff] exact match in snippet view article find links to article

Gaucher disease and Parkinson's disease, and her group first identified glucocerebrosidase as a risk factor for parkinsonism. She led two large international

FAM166B (667 words) [view diff] exact match in snippet view article find links to article

Martin, E; Schule, R; Smets, K; et al. (2013). "Loss of Function of Glucocerebrosidase GBA2 is responsible for Motor Neuron Defects in Hereditary Spastic

PI4K2A (1,482 words) [view diff] exact match in snippet view article find links to article

4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase". Molecular Biology of the Cell. 23 (8): 1533–1545. doi:10.1091/mbc

Ernest Beutler (2,204 words) [view diff] exact match in snippet view article find links to article

J, et al. Molecular cloning and nucleotide sequence of the human glucocerebrosidase gene. Proc Natl Acad Sci USA 82: 7289–7293, 1985 Beutler E. Enzyme