The Uncovered Function of the <i>Drosophila GBA1a</i>-Encoded Protein
Human <i>GBA1</i> encodes lysosomal acid β-glucocerebrosidase (GCase), which hydrolyzes cleavage of the beta-glucosidic linkage of glucosylceramide (GlcCer). Mutations in this gene lead to reduced GCase activity, accumulation of glucosylceramide and glucosylsphingosine, and development o...
Main Authors: | Or Cabasso, Sumit Paul, Gali Maor, Metsada Pasmanik-Chor, Wouter Kallemeijn, Johannes Aerts, Mia Horowitz |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-03-01
|
Series: | Cells |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4409/10/3/630 |
Similar Items
-
<i>Drosophila melanogaster</i> Mutated in its <i>GBA1b</i> Ortholog Recapitulates Neuronopathic Gaucher Disease
by: Or Cabasso, et al.
Published: (2019-09-01) -
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
by: Yoo-Mi Kim, et al.
Published: (2020-11-01) -
Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)
by: Etsuro Nakanishi, et al.
Published: (2021-05-01) -
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
by: Anna Malekkou, et al.
Published: (2020-03-01) -
Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles
by: Elizabeth G. Woo, et al.
Published: (2021-06-01)