Molecular basis of an adult form of β-hexosaminidase B deficiency with motor neuron disease-Reference-Cited by-同舟云学术

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Molecular basis of an adult form of β-hexosaminidase B deficiency with motor neuron disease

Published:1991-11 Issue:1 Volume:181 Page:108-115
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Banerjee Probal,Siciliano Luisa,Oliveri Douglas,McCabe Norah R.,Boyers Michael J.,Horwitz Allen L.,Li Su-Chen,Dawson Glyn

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference28 articles.

1. Natural History and Inherited Disorders of a Lysosomal Enzyme, β-Hexosaminidase

2. Biosynthesis and Catabolism of Glycosphingolipids

3. Activator Proteins for Lysosomal Glycolipid Hydrolysis

4. Report of the committee on linkage and gene order

5. The Metabolic Basis of Inherited Disease;Sandhoff,1989

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2. Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia;Cells;2022-03-12

3. Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling;Molecular Genetics and Metabolism Reports;2019-09

4. Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis;Clinical Neurology and Neurosurgery;2018-04

5. Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA;Human Genome Variation;2018-03-15

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