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WDR45
Description:
A human protein-coding gene associated with neurodevelopmental disorders and involved in cellular autophagy.
Primary topic:
Neurological diseases and metabolism (42%)
Related topics:
Neurological diseases and metabolism (42%),
Autophagy in Disease and Therapy (19%)
Wikidata ID:
wiki/Q18036162
OpenAlex ID:
keywords/wdr45
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
2013
·
Hirotomo Saitsu
, Taki Nishimura
, et al.
·
Nature Genetics
·
474
De Novo Mutations in Moderate or Severe Intellectual Disability
2014
·
Fadi F. Hamdan
, Myriam Srour
, et al.
·
PLoS Genetics
·
417
PDF
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
2012
·
Tobias B. Haack
, Penelope Hogarth
, et al.
·
The American Journal of Human Genetics
·
360
PDF
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
2013
·
Susan J. Hayflick
, Michael C. Kruer
, et al.
·
Brain
·
250
PDF
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms
2014
·
Sonia Levi
, Dario Finazzi
·
Frontiers in Pharmacology
·
164
PDF
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
2015
·
Darius Ebrahimi-Fakhari
, Afshin Saffari
, et al.
·
Brain
·
158
PDF
A gene toolbox for monitoring autophagy transcription
2021
·
Matteo Bordi
, Rossella De Cegli
, et al.
·
Cell Death and Disease
·
130
PDF
Architecture of the ATG2B-WDR45 complex and an aromatic Y/HF motif crucial for complex formation
2017
·
Jing-Xiang Zheng
, Yan Li
, et al.
·
Autophagy
·
127
PDF
WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death
2019
·
Huida Wan
, Qi Wang
, et al.
·
Autophagy
·
111
PDF
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
2016
·
Nathalie Fieremans
, Hilde Van Esch
, et al.
·
Human Mutation
·
107
PDF
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)
2020
·
Isabel Hinarejos
, Candela Machuca
, et al.
·
Antioxidants
·
93
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells
2018
·
Philip Seibler
, Lena F Burbulla
, et al.
·
Brain
·
80
WDR45 , one gene associated with multiple neurodevelopmental disorders
2021
·
Yingying Cong
, Vincent So
, et al.
·
Autophagy
·
67
PDF
β-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells
2021
·
Cuicui Ji
, Hongyu Zhao
, et al.
·
Current Biology
·
67
PDF
WDR45 Mutation Impairs the Autophagic Degradation of Transferrin Receptor and Promotes Ferroptosis
2021
·
Qiuhong Xiong
, Xin Li
, et al.
·
Frontiers in Molecular Biosciences
·
60
PDF
BPAN
2013
·
Tobias B. Haack
, Penny Hogarth
, et al.
·
International review of neurobiology
·
60
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR 45
2017
·
Gemma L. Carvill
, Aijie Liu
, et al.
·
Epilepsia
·
58
PDF
Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy
2015
·
R. Paudel
, A. Li
, et al.
·
Acta Neuropathologica Communications
·
58
PDF
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
2014
·
Chihiro Ohba
, Shin Nabatame
, et al.
·
Journal of Human Genetics
·
55
Monogenic disorders that mimic the phenotype of Rett syndrome
2018
·
Siddharth Srivastava
, Sonal Desai
, et al.
·
Neurogenetics
·
51
WDR45 mutations in three male patients with West syndrome
2016
·
Mitsuko Nakashima
, Kyoko Takano
, et al.
·
Journal of Human Genetics
·
49
Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
2021
·
Jenny L Wilson
, Allison Gregory
, et al.
·
Developmental Medicine & Child Neurology
·
48
PDF
SCP2 mutations and neurodegeneration with brain iron accumulation
2015
·
Rita Horvath
, David Lewis-Smith
, et al.
·
Neurology
·
47
PDF
Loss of WIPI4 in neurodegeneration causes autophagy-independent ferroptosis
2024
·
Ye Zhu
, Motoki Fujimaki
, et al.
·
Nature Cell Biology
·
45
PDF
Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene
2019
·
Jiaping Wang
, Qingping Zhang
, et al.
·
Molecular Genetics & Genomic Medicine
·
44
PDF
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Works count:
227
Citation count:
4,538
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