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

[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].

No to hattatsu = Brain and development - 1 May 2016

Muramatsu Kazuhiro

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 Autophagy
Share to Carrier Proteins
Share to Genetic Association Studies
Share to Iron Metabolism Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation

Share to Neuroaxonal Dystrophies

Share to Phosphate-Binding Proteins

Source

Identifiers

PMID: 27349079

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].PMID 27349079Read ↗

Autophagy receptor defects and ALS-FTLDSemantic proximity Read ↗

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.Semantic proximity Read ↗

A <i>dwdr45</i> knock-out <i>Drosophila</i> model to decipher the role of autophagy in BPANSemantic proximity Read ↗

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Semantic proximity Read ↗

A dwdr45 knock-out drosophila model to decipher the role of autophagy in BPAN.Semantic proximity Read ↗

[Aberrant mRNA splicing in human diseases].Semantic proximity Read ↗

ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.Semantic proximity Read ↗

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)Semantic proximity Read ↗

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanismSemantic proximity Read ↗

Lost in translation: RP and GATA1 mutations in DBA.Semantic proximity Read ↗

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsSemantic proximity Read ↗

Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulationSemantic proximity Read ↗

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