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Article

Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV.

Human molecular genetics - 15 Jul 2017

Li Huiqing, Pei Wuhong, Vergarajauregui Sivia, Zerfas Patricia M, Raben Nina, Burgess Shawn M, Puertollano Rosa

Abstract excerpt

Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study, we used genome editing to knockout the two mcoln1 genes present in Danio rerio (zebrafish). Our model successfully...

Topics

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Amino Acid Sequence
Autophagosomes
Disease Models, Animal
Gene Knockout Techniques
Mucolipidoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Transient Receptor Potential Channels

Zebrafish Proteins

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Open in PubMed Open full text

Identifiers

PMID: 28449103
DOI: 10.1093/hmg/ddx158
PMCID: PMC5886147

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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