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WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.
Wan H, Wang Q, Chen X, Zeng Q, Shao Y, Fang H, Liao X, Li HS, Liu MG, Xu TL, Diao M, Li D, Meng B, Tang B, Zhang Z, Liao L. Wan H, et al. Autophagy. 2020 Mar;16(3):531-547. doi: 10.1080/15548627.2019.1630224. Epub 2019 Jun 23. Autophagy. 2020. PMID: 31204559 Free PMC article.
Mutations in the macroautophagy/autophagy gene WDR45 cause beta-propeller protein-associated neurodegeneration (BPAN); however the molecular and cellular mechanism of the disease process is largely unknown. Here we generated constitutive wdr45 knockout (KO) mice tha …
Mutations in the macroautophagy/autophagy gene WDR45 cause beta-propeller protein-associated neurodegeneration (BPAN); however the mo …
Phenotypic and Imaging Spectrum Associated With WDR45.
Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A. Adang LA, et al. Pediatr Neurol. 2020 Aug;109:56-62. doi: 10.1016/j.pediatrneurol.2020.03.005. Epub 2020 Mar 11. Pediatr Neurol. 2020. PMID: 32387008
BACKGROUND: Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. ...There is variable expressivity in the clinical phenotypes of individuals with WDR45 mutations, suggesting that this gene should be considered in the diag …
BACKGROUND: Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. ...There is variable ex …
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C. Seibler P, et al. Brain. 2018 Oct 1;141(10):3052-3064. doi: 10.1093/brain/awy230. Brain. 2018. PMID: 30169597 Free PMC article.
However, the role of WDR45 in iron homeostasis remains elusive. Here we studied patient-specific WDR45 mutant fibroblasts and induced pluripotent stem cell-derived midbrain neurons. ...Restoring WDR45 levels partially rescued oxidative stress and the suscepti …
However, the role of WDR45 in iron homeostasis remains elusive. Here we studied patient-specific WDR45 mutant fibroblasts and …
The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis.
Zhao YG, Sun L, Miao G, Ji C, Zhao H, Sun H, Miao L, Yoshii SR, Mizushima N, Wang X, Zhang H. Zhao YG, et al. Autophagy. 2015;11(6):881-90. doi: 10.1080/15548627.2015.1047127. Autophagy. 2015. PMID: 26000824 Free PMC article.
WDR45/WIPI4, encoding a WD40 repeat-containing PtdIns(3)P binding protein, is essential for the basal autophagy pathway. Mutations in WDR45 cause the neurodegenerative disease beta-propeller protein-associated neurodegeneration (BPAN), a subtype of NBIA. ...
WDR45/WIPI4, encoding a WD40 repeat-containing PtdIns(3)P binding protein, is essential for the basal autophagy pathway. Mutations in
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N. Saitsu H, et al. Nat Genet. 2013 Apr;45(4):445-9, 449e1. doi: 10.1038/ng.2562. Epub 2013 Feb 24. Nat Genet. 2013. PMID: 23435086
By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional WDR45 mutations were identified in three other subjects by Sanger sequencing. Using lymphoblastoid cell lines (LCLs) derived from the …
By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional …
Is WDR45 the missing link for ER stress-induced autophagy in beta-propeller associated neurodegeneration?
Mollereau B, Walter L. Mollereau B, et al. Autophagy. 2019 Dec;15(12):2163-2164. doi: 10.1080/15548627.2019.1668229. Epub 2019 Sep 19. Autophagy. 2019. PMID: 31525124 Free PMC article.
Beta-propeller protein-associated neurodegeneration (BPAN) is caused by mutations in the autophagy gene WDR45/WIPI4. In human, BPAN is associated with static encephalopathy in childhood and neurodegeneration in adulthood (SENDA). It has been proposed that WDR45 muta …
Beta-propeller protein-associated neurodegeneration (BPAN) is caused by mutations in the autophagy gene WDR45/WIPI4. In human, BPAN i …
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.
Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL. Hoffjan S, et al. Mol Cell Probes. 2016 Feb;30(1):44-9. doi: 10.1016/j.mcp.2016.01.003. Epub 2016 Jan 11. Mol Cell Probes. 2016. PMID: 26790960 Review.
Recent reports suggest that WDR45 mutations are associated with a broader phenotypic spectrum. ...This information indicates that WDR45 mutations should be added to the growing list of genetic alterations linked to Rett-like syndrome. ...
Recent reports suggest that WDR45 mutations are associated with a broader phenotypic spectrum. ...This information indicates that …
Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl.
Xiong Q, Li W, Li P, Zhao Z, Wu C, Xiao H. Xiong Q, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e858. doi: 10.1002/mgg3.858. Epub 2019 Jul 22. Mol Genet Genomic Med. 2019. PMID: 31332960 Free PMC article.
BACKGROUND: Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogene …
BACKGROUND: Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by muta …
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a …
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal …
Neurodegeneration with brain iron accumulation.
Hayflick SJ, Kurian MA, Hogarth P. Hayflick SJ, et al. Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. Handb Clin Neurol. 2018. PMID: 29325618 Review.
The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A(2)-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations …
The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase …
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