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

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Cellular and molecular life sciences : CMLS - 1 May 2021

Basak I, Wicky H E, McDonald K O, Xu J B, Palmer J E, Best H L, Lefrancois S, Lee S Y, Schoderboeck L, Hughes S M

Abstract excerpt

Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. The thirteen forms of NCL are caused by mutations in thirteen CLN genes. Mutations in one CLN gene, CLN5, cause variant late-infantile NCL, with an age of onset between 4 and 7 years. The CLN5 protein is ubiquitously expressed in the majority of tissues studied and in the brain, CLN5 shows both neuronal...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lysosomal Membrane Proteins

Share to Lysosomal Storage Disorders Research

Share to Lysosomes

Share to Mutation

Share to Neuronal Ceroid-Lipofuscinoses

Source

Open in PubMed Open full text

Identifiers

PMID: 33792748
DOI: 10.1007/s00018-021-03813-x
PMCID: PMC8195759

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.PMID 33792748Read ↗

Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement.Semantic proximity Read ↗

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.Semantic proximity Read ↗

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.Semantic proximity Read ↗

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunctionSemantic proximity Read ↗

Deficiency of the lysosomal protein CLN5 alters lysosomal function and movementSemantic proximity Read ↗

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.Semantic proximity Read ↗

Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.Semantic proximity Read ↗

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosisSemantic proximity Read ↗

CLN5 disease-causing mutations impact lysosomal biology by affecting intracellular degradation and protein trafficking.Semantic proximity Read ↗

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brainSemantic proximity Read ↗

Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics.Semantic proximity Read ↗

Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.Semantic proximity Read ↗

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