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 variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

Molecular genetics & genomic medicine - 1 Nov 2020

Tang Xiaojun, Lan Xiaoping, Song Xiaozhen, Xu Wuhen, Zhang Yuanfeng, Zhang Hong, Wu Shengnan

Abstract excerpt

BACKGROUND: Beta-propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by variants in WD repeat domain 45(WDR45), which is characterized by iron accumulation in the basal ganglia, however, it may be...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Epilepsy

Share to Exome Sequencing

Share to Infant

Share to Magnetic Resonance Imaging

Share to Neurodegenerative Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 33037762
DOI: 10.1002/mgg3.1499
PMCID: PMC7667327

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.PMID 33037762Read ↗

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.Semantic proximity Read ↗

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.Semantic proximity Read ↗

Phenotypic and Imaging Spectrum Associated With WDR45.Semantic proximity Read ↗

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.Semantic proximity Read ↗

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.Semantic proximity Read ↗

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.Semantic proximity Read ↗

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.Semantic proximity Read ↗

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.Semantic proximity Read ↗

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.Semantic proximity Read ↗

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.Semantic proximity Read ↗

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.Semantic proximity Read ↗

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated NeurodegenerationSemantic proximity Read ↗

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