PNAS

The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms

Gaucher disease is a lysosomal storage disorder caused by deficiency in lysosomal acid β-glucosidase (GlcCerase), the enzyme responsible for the catabolism of glucosylceramide. One of the most ...
Europe PMC

The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.

The properties of the endolysosomal enzyme GCase (glucosylceramidase), carrying the most prevalent mutation observed in Gaucher patients, namely substitution of an asparagine residue with a serine at ...
PNAS

Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease

Gaucher disease is a lysosomal storage disorder caused by deficient lysosomal β-glucosidase (β-Glu) activity. A marked decrease in enzyme activity results in progressive accumulation of the substrate ...
ALZFORUM

HGBA N370S Tg on Gba1 KO Mouse

This mouse model carries one copy of a human HGBA N370S transgene, which encodes a mutated acid β-glucosidase (also known as β-glucocerebrosidase or GCase), on a mouse Gba1 null background and is ...
SciELO

GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil

Parkinson's disease (PD) is the second most common progressive neurodegenerative disease in humans and it is characterized by muscular rigidity, resting tremor, bradykinesia, and postural instability.
Zap Doctors

נשאות לגושה -N370S

מצויין שהנשאות היא הטרוזיגוטית. GA IVS2+1 NORMAL GA N370S HETEROZYG. GA V394L NORMAL GA R496H NORMAL GA 84GG NORMAL כמו כן, כפי שאני מבינה, לא נבדקה המוטציה מהתוצאות הנ"ל, לא נבדקה המוטציה L444P 1.