Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.

Journal of the neurological sciences - 30 Mar 2002

Yoshizawa Toshihiro, Kohno Yutaka, Nissato Sumiko, Shoji Shin'ichi

Abstract excerpt

Little information is available on molecular defects involved in adult Sandhoff disease presenting as motor neuron disease phenotype. We studied enzyme activities of beta-hexosaminidase (Hex) and the HEXB gene encoding the beta-subunit of Hex in a family of the Japanese case. Enzyme assay with 4-methylumbelliferyl-2-acetamido-2-deoxy-beta-D-glucopyranoside revealed a reduction in Hex A and B activity in proband's...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to beta-N-Acetylhexosaminidases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Central Nervous System

Share to COS Cells

Share to Hexosaminidase A

Share to Motor Neuron Disease

Share to Sandhoff Disease

Share to Sex Factors

Source

Identifiers

PMID: 11897243
DOI: 10.1016/s0022-510x(02)00007-2

Genes

HEXB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.PMID 11897243Read ↗

Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.Semantic proximity Read ↗

A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.Semantic proximity Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

Novel homozygous HEXB mutation identified in a consanguineous Iranian pedigree with Sandhoff diseaseSemantic proximity Read ↗

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.Semantic proximity Read ↗

[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].Semantic proximity Read ↗

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.Semantic proximity Read ↗

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB geneSemantic proximity Read ↗

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.Semantic proximity Read ↗

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.Semantic proximity Read ↗

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.Semantic proximity Read ↗

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.