niemann-pick diseases/proline

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

3 matokeo

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

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Ingia / Ingia

Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM; E.C. 3.1.4.12) and the resultant lysosomal accumulation of sphingomyelin. Type A disease is a fatal, neurodegenerative disorder of infancy, whereas type B disease has no neurologic

Potential pitfalls and solutions for use of fluorescent fusion proteins to study the lysosome.

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Ingia / Ingia

Use of fusion protein tags to investigate lysosomal proteins can be complicated by the acidic, protease-rich environment of the lysosome. Potential artifacts include degradation or release of the tag and acid quenching of fluorescence. Tagging can also affect protein folding, glycosylation and/or

Molecular dynamics simulations reveal structural differences among wild-type NPC1 protein and its mutant forms.

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Ingia / Ingia

NPC1 is a 25-exon gene located on the long arm of chromosome 18q11.2 and encodes NPC1, a transmembrane protein comprising 1278 amino acid residues. Mutations in the NPC1 gene can cause Niemann-Pick disease type C (NP-C), a rare autosomal-recessive neurovisceral disease. We assessed

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Herbal & Natural Medicine

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