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

Mucolipidosis type IV.

Molecular genetics and metabolism - 1 Jul 2001

Bach G

Abstract excerpt

Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmological abnormalities, including corneal opacities, retinal degeneration, and strabismus. Severely affected as well as milder patients have been described. Over 80% of the MLIV patients are Ashkenazi Jews; the estimated heterozygote frequency in this population is 1/100. The disease...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 19
Share to Endocytosis
Share to Golgi Apparatus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Lipid Metabolism

Share to Lysosomal Storage Diseases

Share to Mucolipidoses

Source

Identifiers

PMID: 11461186
DOI: 10.1006/mgme.2001.3195

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mucolipidosis type IV.PMID 11461186Read ↗

The molecular basis of mucolipidosis type IV.Semantic proximity Read ↗

Identification of the gene causing mucolipidosis type IV.Semantic proximity Read ↗

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.Semantic proximity Read ↗

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.Semantic proximity Read ↗

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.Semantic proximity Read ↗

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.Semantic proximity Read ↗

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.Semantic proximity Read ↗

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.Semantic proximity Read ↗

Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.Semantic proximity Read ↗

A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.Semantic proximity Read ↗

Mucolipidosis type IV and the mucolipins.Semantic proximity Read ↗

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.Semantic proximity Read ↗

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