WordNet

an impairment of health or a condition of abnormal functioning
(computer science) the process of storing information in a computer memory or on a magnetic tape or disk
the act of storing something
the commercial enterprise of storing goods and materials
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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1. 炎症性腸疾患における遺伝的要因 genetic factors in inflammatory bowel disease
2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
3. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
4. ファブリー病の臨床的特徴および診断 clinical features and diagnosis of fabry disease
5. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease

A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts.

Schueler U1, Kaneski C2, Remaley A3, Demosky S3, Dwyer N4, Blanchette-Mackie J4, Hanover J4, Brady R2.
JIMD reports.JIMD Rep.2015 Dec 19. [Epub ahead of print]
Fabry disease is an X-linked sphingolipid storage disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A (AGA, EC 3.2.1.22) resulting in the intracellular accumulation of globotriaosylceramide (Gb3). We found that Gb3 storage also correlates with accumulation of endosomal-lysosom
PMID 26683465

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.

Keatinge M1, Bui H2, Menke A3, Chen YC4, Sokol AM5, Bai Q6, Ellett F7, Da Costa M1, Burke D8, Gegg M9, Trollope L1, Payne T1, McTighe A1, Mortiboys H10, de Jager S11, Nuthall H2, Kuo MS2, Fleming A11, Schapira AH9, Renshaw SA12, Highley JR10, Chacinska A5, Panula P4, Burton EA6, O'Neill MJ13, Bandmann O14.
Human molecular genetics.Hum Mol Genet.2015 Dec 1;24(23):6640-52. doi: 10.1093/hmg/ddv369. Epub 2015 Sep 16.
Autosomal recessively inherited glucocerebrosidase 1 (GBA1) mutations cause the lysosomal storage disorder Gaucher's disease (GD). Heterozygous GBA1 mutations (GBA1(+/-)) are the most common risk factor for Parkinson's disease (PD). Previous studies typically focused on the interaction between the r
PMID 26376862

Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy.

Lin DS1, Hsiao CD2, Lee AY3, Ho CS4, Liu HL5, Wang TJ6, Jian YR7, Hsu JC7, Huang ZD7, Lee TH7, Chiang MF8.
Gene.Gene.2015 Oct 15;571(1):81-90. doi: 10.1016/j.gene.2015.06.049. Epub 2015 Jun 23.
Globoid cell leukodystrophy (GLD) is an autosomal recessive, lysosomal storage disease caused by deficiency of the enzyme galactocerebrosidase (GALC). The absence of GALC activity leads to the accumulation of the toxic substance psychosine and the preferential loss of myelinating cells in the centra
PMID 26115766