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

[Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy].

No to hattatsu = Brain and development - 1 May 2016

Hayashi Masaharu

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Agenesis of Corpus Callosum
Share to Drug Resistant Epilepsy
Share to Lysosomal Membrane Proteins
Share to Mucolipidoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myoclonic Epilepsies, Progressive

Share to Sequestosome-1 Protein

Share to Sorting Nexins

Share to Transient Receptor Potential Channels

Source

Identifiers

PMID: 27349080

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy].PMID 27349080Read ↗

An update on autophagy disordersSemantic proximity Read ↗

Vici syndrome: a review.Semantic proximity Read ↗

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Semantic proximity Read ↗

[Autophagy in differentiation and development].Semantic proximity Read ↗

Role of<i><i>Epg5</i></i>in selective neurodegeneration and Vici syndromeSemantic proximity Read ↗

Pathogenic variants in autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activationSemantic proximity Read ↗

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Semantic proximity Read ↗

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici Syndrome patientsSemantic proximity Read ↗

Bi-allelic <i>ATG12</i> variants impair autophagy and cause a neurodevelopmental disorderSemantic proximity Read ↗

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patientsSemantic proximity Read ↗

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Semantic proximity Read ↗

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.Semantic proximity Read ↗

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