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

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).

Biochimica et biophysica acta - 1 Nov 2013

Hawkins-Salsbury Jacqueline A, Cooper Jonathan D, Sands Mark S

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases. Infantile neuronal ceroid lipofuscinosis (INCL, infantile Batten disease, or infantile CLN1 disease) is caused by a deficiency in the soluble lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1) and has the earliest onset and fastest progression of all the NCLs. Several therapeutic strategies...

Topics

Join the communities discussing this publication.

Disease Models, Animal
NCL gene
Membrane Proteins
Mice
Mutation
Neuronal Ceroid-Lipofuscinoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 23747979
DOI: 10.1016/j.bbadis.2013.05.026
PMCID: PMC4573397

Genes

NCL
PPT1

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).PMID 23747979Read ↗

The neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapySemantic proximity Read ↗

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).Semantic proximity Read ↗

Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Reduction of Neuroinflammation and Seizures in a Mouse Model of CLN1 Batten Disease using the Small Molecule Enzyme Mimetic, N-Tert-Butyl HydroxylamineSemantic proximity Read ↗

CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)Semantic proximity Read ↗

Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for TherapySemantic proximity Read ↗

Neuronal ceroid lipofuscinoses: classification and diagnosis.Semantic proximity Read ↗

Combination small molecule PPT1 mimetic and CNS‐directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosisSemantic proximity Read ↗

A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Management of CLN1 Disease: International Clinical Consensus.Semantic proximity Read ↗

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

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