| Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy. | Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.
Gazit I, Hecht I, Weiner C, Kotlyar A, Almer Z, Bakshi E, Or L, Volkov H, Feldman B, Maharshak I, Michelson M, Goldenberg-Cohen N, Pras E., Free PMC Article | 11/3/2023 |
| WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism. | WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism.
Xiong Q, Sun H, Xing W, Li X, Chen G, Zhao Z, Wu C, Li P. | 05/31/2023 |
| Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. | Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
Saffari A, Schröter J, Garbade SF, Alecu JE, Ebrahimi-Fakhari D, Hoffmann GF, Kölker S, Ries M, Syrbe S., Free PMC Article | 07/23/2022 |
| Autophagic defects observed in fibroblasts from a patient with beta-propeller protein-associated neurodegeneration. | Autophagic defects observed in fibroblasts from a patient with β-propeller protein-associated neurodegeneration.
Lee JH, Nam SO, Kim EK, Shin JH, Oh SH, Ryu D, Lee HE, Mun JY. | 03/5/2022 |
| A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation. | A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation.
Aring L, Choi EK, Kopera H, Lanigan T, Iwase S, Klionsky DJ, Seo YA., Free PMC Article | 02/19/2022 |
| Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts. | Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts.
Lee HE, Jung MK, Noh SG, Choi HB, Chae SH, Lee JH, Mun JY., Free PMC Article | 01/8/2022 |
| Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review. | Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.
Kano K, Yamanaka G, Muramatsu K, Morichi S, Ishida Y, Takamatsu T, Suzuki S, Miyajima T, Nakagawa E, Nishino I, Kawashima H. | 07/10/2021 |
| Phenotypic and Imaging Spectrum Associated With WDR45. | 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., Free PMC Article | 06/19/2021 |
| De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families. | De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.
Tang X, Lan X, Song X, Xu W, Zhang Y, Zhang H, Wu S., Free PMC Article | 06/12/2021 |
| Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. Novel mutation in WDR45 impaired autophagy in cells thus this mutation is the cause for BPAN in this patient. | 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., Free PMC Article | 05/30/2020 |
| Our data suggest that iron-containing macromolecules and organelles cannot effectively be degraded through the lysosomal pathway due to loss of WDR45 function | 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., Free PMC Article | 07/6/2019 |
| Novel missense mutations in WDR45 were identified in female pediatric patients with developmental delay and/or epilepsy. Arg134Pro and p. Gly168Glu mutations showed accumulation of LC3-containing autophagic structures and enlarged cell volume in HeLa cells. | Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H, Qian Y, Yu S, Xiao D, Guo X, Wang Q, Hao L, Yan K, Lu Y, Dong X, Zhou W, Wu B, Zhou S, Wang H. | 03/9/2019 |
| WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy | WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.
Bakula D, Müller AJ, Zuleger T, Takacs Z, Franz-Wachtel M, Thost AK, Brigger D, Tschan MP, Frickey T, Robenek H, Macek B, Proikas-Cezanne T., Free PMC Article | 12/22/2018 |
| This study showed that Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. | Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE., Free PMC Article | 09/15/2018 |
| This study showed that WDR45 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. | Neurodegeneration with brain iron accumulation.
Hayflick SJ, Kurian MA, Hogarth P., Free PMC Article | 07/28/2018 |
| This study showed the WDR45 mutation complicated by infantile spasms. | Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.
Morikawa M, Takano K, Motobayashi M, Shiba N, Kosho T, Nakazawa Y, Inaba Y. | 05/12/2018 |
| A rare male patient is reported with mutation in WDR45 and early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase. | Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T. | 12/9/2017 |
| Inherited WDR45 variants are possible, albeit rare. Hemizygous germline variants in males can be viable, but likely result in a more severe NBIA phenotype. | Lessons from a pair of siblings with BPAN.
Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC., Free PMC Article | 07/29/2017 |
| Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy. | WDR45 mutations in three male patients with West syndrome.
Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. | 04/8/2017 |
| WDR45 mutation is associated with beta-propeller protein-associated neurodegeneration. | Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. | 10/29/2016 |
| Genetic analysis for WDR45 revealed that she had a splice site mutation | [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].
Morisada N, Tsuneishi S, Taguchi K, Yagi R, Nishiyama M, Toyoshima D, Nakagawa T, Takeshima Y, Takada S, Iijima K. | 07/30/2016 |
| It is an autophagy gene and its mutation causes SENDA/BPAN(beta-propeller protein associated neurodegeneration). (review) | [De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].
Muramatsu K. | 07/30/2016 |
| C19orf12 mutations were confirmed in our heterogeneous NBIA cohort, while WDR45 mutations appear to be restricted to the subtype showing encephalopathy in childhood with neurodegeneration in adulthood. | Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S. | 08/8/2015 |
| An observed mutation of WDR45 (c.C868T:p.Q290X) seems to cause beta-propeller protein-associated neurodegeneration. | Early manifestations of BPAN in a pediatric patient.
Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I. | 07/25/2015 |
| Mutations in WDR45 were associated with neurodegeneration with brain iron accumulation and neuropsychiatric syndromes. | Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP. | 11/29/2014 |