Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
出版年份 2018 全文链接
标题
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
作者
关键词
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出版物
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 19, Issue 10, Pages 3099
出版商
MDPI AG
发表日期
2018-10-10
DOI
10.3390/ijms19103099
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- A lysosome–plasma membrane–sphingolipid axis linking lysosomal storage to cell growth arrest
- (2018) Maura Samarani et al. FASEB JOURNAL
- Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease
- (2017) Sophie Schonauer et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells
- (2017) Domitilla Schiumarini et al. MEDIATORS OF INFLAMMATION
- GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies
- (2017) Kristoffer Haugarvoll et al. PLoS One
- Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases
- (2016) Maria J. Ferraz et al. FEBS LETTERS
- Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)
- (2015) Saki Sultana et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Accumulation of Glucosylceramide in the Absence of the Beta-Glucosidase GBA2 Alters Cytoskeletal Dynamics
- (2015) Diana Raju et al. PLoS Genetics
- Mining the genome for lipid genes
- (2014) Jan Albert Kuivenhoven et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- GBA2-Encoded β-Glucosidase Activity Is Involved in the Inflammatory Response to Pseudomonas aeruginosa
- (2014) Nicoletta Loberto et al. PLoS One
- Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
- (2013) Elodie Martin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
- (2013) Monia B. Hammer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A NovelGBA2Gene Missense Mutation in Spastic Ataxia
- (2013) Christina Votsi et al. ANNALS OF HUMAN GENETICS
- TFEB activation promotes the recruitment of lysosomal glycohydrolases β-hexosaminidase and β-galactosidase to the plasma membrane
- (2013) Alessandro Magini et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
- (2013) Andrea Citterio et al. JOURNAL OF NEUROLOGY
- Ionizing radiations increase the activity of the cell surface glycohydrolases and the plasma membrane ceramide content
- (2012) Massimo Aureli et al. GLYCOCONJUGATE JOURNAL
- The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi
- (2012) Heinz G. Körschen et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases
- (2012) F. Lamari et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts
- (2012) Massimo Aureli et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration
- (2012) Maria A. Gonzalez-Carmona et al. LIVER INTERNATIONAL
- Plasma Membrane-Associated Glycohydrolases Activation by Extracellular Acidification due to Proton Exchangers
- (2012) Massimo Aureli et al. NEUROCHEMICAL RESEARCH
- Sphingolipid and Glycosphingolipid Metabolic Pathways in the Era of Sphingolipidomics
- (2011) Alfred H. Merrill CHEMICAL REVIEWS
- Cell surface sphingolipid glycohydrolases in neuronal differentiation and aging in culture
- (2011) Massimo Aureli et al. JOURNAL OF NEUROCHEMISTRY
- A New Archaeal β-Glycosidase fromSulfolobus solfataricus
- (2010) Beatrice Cobucci-Ponzano et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Remodeling of Sphingolipids by Plasma Membrane Associated Enzymes
- (2010) Massimo Aureli et al. NEUROCHEMICAL RESEARCH
- Activity of plasma membrane β-galactosidase and β-glucosidase
- (2009) Massimo Aureli et al. FEBS LETTERS
- Covalent inhibitors of glycosidases and their applications in biochemistry and biology
- (2008) B. P Rempel et al. GLYCOBIOLOGY
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