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Select item 92984481.

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe

Autophagy. 2022; 18(7): 1715–1727. Published online 2021 Nov 24. doi: 10.1080/15548627.2021.1990671

PMCID:: PMC9298448

Article PDF–1.2M

Select item 88119502.

A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation

Luisa Aring, Eun‐Kyung Choi, Huira Kopera, Thomas Lanigan, Shigeki Iwase, Daniel J. Klionsky, Young Ah Seo

J Neurochem. 2022 Feb; 160(3): 356–375. Published online 2021 Dec 8. doi: 10.1111/jnc.15548

PMCID:: PMC8811950

Article PDF–2.3M

Select item 85840783.

Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts

Hye Eun Lee, Min Kyo Jung, Seul Gi Noh, Hye Bin Choi, Se hyun Chae, Jae Hyeok Lee, Ji Young Mun

Int J Mol Sci. 2021 Nov; 22(21): 11650. Published online 2021 Oct 28. doi: 10.3390/ijms222111650

PMCID:: PMC8584078

Article PDF–2.8M

Select item 76673274.

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

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

Mol Genet Genomic Med. 2020 Nov; 8(11): e1499. Published online 2020 Oct 10. doi: 10.1002/mgg3.1499

PMCID:: PMC7667327

Article PDF–1.5M

Select item 73871985.

Phenotypic and imaging spectrum associated with WDR45

Laura A. Adang, Amy Pizzino, Alka Malhotra, Holly Dubbs, Catherine Williams, Omar Sherbini, Anna-Kaisa Anttonen, Gaetan Lesca, Tarja Linnankivi, Chloé Laurencin, Matthieu Milh, Charles Perrine, Christian P. Schaaf, Anne-Lise Poulat, Dorothee Ville, Tanner Hagelstrom, Denise L. Perry, Ryan J. Taft, Amy Goldstein, Arastoo Vossough, Ingo Helbig, Adeline Vanderver

Pediatr Neurol. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Pediatr Neurol. 2020 Aug; 109: 56–62. Published online 2020 Mar 11. doi: 10.1016/j.pediatrneurol.2020.03.005

PMCID:: PMC7387198

Article PDF–439K

Select item 71900336.

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells

Philip Seibler, Lena F Burbulla, Marija Dulovic, Simone Zittel, Johanne Heine, Thomas Schmidt, Franziska Rudolph, Ana Westenberger, Aleksandar Rakovic, Alexander Münchau, Dimitri Krainc, Christine Klein

Brain. 2018 Oct; 141(10): 3052–3064. Published online 2018 Aug 30. doi: 10.1093/brain/awy230

Correction in:: Brain. 2019 Mar; 142(3): e10.

PMCID:: PMC7190033

Article PDF–1.2M

Select item 67322917.

Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl

Qiuhong Xiong, Wenjing Li, Ping Li, Zhonghua Zhao, Changxin Wu, Han Xiao

Mol Genet Genomic Med. 2019 Sep; 7(9): e858. Published online 2019 Jul 22. doi: 10.1002/mgg3.858

PMCID:: PMC6732291

Article PDF–468K

Select item 57603588.

Severe infantile-onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C. Mefford, Ingrid E. Scheffer

Epilepsia. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Epilepsia. 2018 Jan; 59(1): e5–e13. Published online 2017 Nov 24. doi: 10.1111/epi.13957

PMCID:: PMC5760358

Article PDF–461K

Select item 50708939.

Lessons from a pair of siblings with BPAN

Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer, Michael C Kruer

Eur J Hum Genet. 2016 Jul; 24(7): 1080–1083. Published online 2015 Nov 18. doi: 10.1038/ejhg.2015.242

Correction in:: Eur J Hum Genet. 2016 Jul; 24(7): 1095.

PMCID:: PMC5070893

Article PDF–1.0M

Select item 427841110.

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

Tadashi Ozawa, Reiji Koide, Yasuhiro Nakata, Hirotomo Saitsu, Naomichi Matsumoto, Kazushi Takahashi, Imaharu Nakano, Satoshi Orimo

Am J Med Genet A. 2014 Sep; 164(9): 2388–2390. Published online 2014 Jul 10. doi: 10.1002/ajmg.a.36635

PMCID:: PMC4278411

Article PDF–326K

Select item 367345911.

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry H. Houlden, James Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Kenton R. Holden, Steven Frucht, Era Hanspal, Connie Schrander-Stumpel, Cyril Mignot, Delphine Héron, Dawn E. Saunders, Margaret Kaminska, Jean-Pierre Lin, Karine Lascelles, Stephan M. Cuno, Esther Meyer, Barbara Garavaglia, Kailash Bhatia, Rajith de Silva, Sarah Crisp, Peter Lunt, Martyn Carey, John Hardy, Thomas Meitinger, Holger Prokisch, Penelope Hogarth

Brain. 2013 Jun; 136(6): 1708–1717. Published online 2013 May 17. doi: 10.1093/brain/awt095

PMCID:: PMC3673459

Article PDF–810K

Select item 351659312.

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Steven Frucht, Era Hanspal, Connie Schrander-Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry H. Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick

Am J Hum Genet. 2012 Dec 7; 91(6): 1144–1149. doi: 10.1016/j.ajhg.2012.10.019

PMCID:: PMC3516593

Article PDF–411K

Select item 1057358713.

Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy

Inbal Gazit, Idan Hecht, Chen Weiner, Alina Kotlyar, Zina Almer, Erez Bakshi, Lior Or, Hadas Volkov, Barak Feldman, Idit Maharshak, Marina Michelson, Nitza Goldenberg-Cohen, Eran Pras

Invest Ophthalmol Vis Sci. 2023 Oct; 64(13): 17. Published online 2023 Oct 11. doi: 10.1167/iovs.64.13.17

PMCID:: PMC10573587

Article PDF–1.6M

Select item 619651114.

Insights into autophagosome biogenesis from structural and biochemical analyses of the ATG2A-WIPI4 complex

Saikat Chowdhury, Chinatsu Otomo, Alexander Leitner, Kazuto Ohashi, Ruedi Aebersold, Gabriel C. Lander, Takanori Otomo

Proc Natl Acad Sci U S A. 2018 Oct 16; 115(42): E9792–E9801. Published online 2018 Sep 5. doi: 10.1073/pnas.1811874115

PMCID:: PMC6196511

Article PDF–1.9M

Select item 662579315.

The autophagic membrane tether ATG2A transfers lipids between membranes

Shintaro Maeda, Chinatsu Otomo, Takanori Otomo

eLife. 2019; 8: e45777. Published online 2019 Jul 4. doi: 10.7554/eLife.45777

PMCID:: PMC6625793

Article PDF–3.8M

Select item 823560116.

Neurodegeneration with brain iron accumulation

SUSAN J. HAYFLICK, MANJU A. KURIAN, PENELOPE HOGARTH

Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 26.

Published in final edited form as: Handb Clin Neurol. 2018; 147: 293–305. doi: 10.1016/B978-0-444-63233-3.00019-1

PMCID:: PMC8235601

Article PDF–695K

Select item 670186717.

TOM40 Targets Atg2 to Mitochondria-Associated ER Membranes for Phagophore Expansion

Zhenyuan Tang, Yoshinori Takahashi, Haiyan He, Tatsuya Hattori, Chong Chen, Xinwen Liang, Han Chen, Megan M. Young, Hong-Gang Wang

Cell Rep. Author manuscript; available in PMC 2019 Aug 20.

Published in final edited form as: Cell Rep. 2019 Aug 13; 28(7): 1744–1757.e5. doi: 10.1016/j.celrep.2019.07.036

PMCID:: PMC6701867

Article PDF–3.3M

Select item 42009018.

PtdIns-specific MPR Pathway Association of a Novel WD40 Repeat Protein, WIPI49

Tim R. Jeffries, Stephen K. Dove, Robert H. Michell, Peter J. Parker

Mol Biol Cell. 2004 Jun; 15(6): 2652–2663. doi: 10.1091/mbc.E03-10-0732

PMCID:: PMC420090

Article PDF–1.2M

Select item 868275119.

A conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causing β-propeller protein-associated neurodegeneration

Miranda Bueno-Arribas, Irene Blanca, Celia Cruz-Cuevas, Ricardo Escalante, María-Angeles Navas, Olivier Vincent

Hum Mol Genet. 2022 Jan 1; 31(1): 111–121. Published online 2021 Aug 9. doi: 10.1093/hmg/ddab225

PMCID:: PMC8682751

Article PDF–1.0M

Select item 546003820.

WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy

Daniela Bakula, Amelie J. Müller, Theresia Zuleger, Zsuzsanna Takacs, Mirita Franz-Wachtel, Ann-Katrin Thost, Daniel Brigger, Mario P. Tschan, Tancred Frickey, Horst Robenek, Boris Macek, Tassula Proikas-Cezanne

Nat Commun. 2017; 8: 15637. Published online 2017 May 31. doi: 10.1038/ncomms15637

PMCID:: PMC5460038

Article PDF–4.5M

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