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Select item 105735871.

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

Abstract Article PDF–1.6M

Select item 92984482.

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

Abstract Article PDF–1.2M

Select item 91197363.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 91052354.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 90375545.

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy

Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell

Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116

PMCID:: PMC9037554

Abstract Article PDF–4.1M

Select item 90147116.

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

Fabian Hosp, Hannes Vossfeldt, Matthias Heinig, Djordje Vasiljevic, Anup Arumughan, Emanuel Wyler, Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium, Markus Landthaler, Norbert Hubner, Erich E. Wanker, Lars Lannfelt, Martin Ingelsson, Maciej Lalowski, Aaron Voigt, Matthias Selbach

Cell Rep. Author manuscript; available in PMC 2022 Apr 18.

Published in final edited form as: Cell Rep. 2015 May 19; 11(7): 1134–1146. Published online 2015 May 7. doi: 10.1016/j.celrep.2015.04.030

PMCID:: PMC9014711

Abstract Article PDF–2.2M

Select item 88119507.

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

Abstract Article PDF–2.3M

Select item 86827518.

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

Abstract Article PDF–1.0M

Select item 85840789.

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

Abstract Article PDF–2.8M

Select item 838674010.

Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy

Waka Kojima, Koji Yamano, Hidetaka Kosako, Kenichiro Imai, Reika Kikuchi, Keiji Tanaka, Noriyuki Matsuda

Autophagy. 2021; 17(8): 2011–2036. Published online 2021 Jan 26. doi: 10.1080/15548627.2021.1874133

PMCID:: PMC8386740

Abstract Article PDF–13M

Select item 823560111.

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

Abstract Article PDF–695K

Select item 816503012.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 773761013.

Receptor‐mediated clustering of FIP200 bypasses the role of LC3 lipidation in autophagy

Amelia E Ohnstad, Jose M Delgado, Brian J North, Isha Nasa, Arminja N Kettenbach, Sebastian W Schultz, Christopher J Shoemaker

EMBO J. 2020 Dec 15; 39(24): e104948. Published online 2020 Nov 23. doi: 10.15252/embj.2020104948

PMCID:: PMC7737610

Abstract Article PDF–3.7M

Select item 766732714.

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

Abstract Article PDF–1.5M

Select item 738719815.

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

Abstract Article PDF–439K

Select item 732206716.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 727904917.

EDEM1 Drives Misfolded Protein Degradation via ERAD and Exploits ER-Phagy as Back-Up Mechanism When ERAD Is Impaired

Marioara Chiritoiu, Gabriela N. Chiritoiu, Cristian V. A. Munteanu, Florin Pastrama, N. Erwin Ivessa, Stefana M. Petrescu

Int J Mol Sci. 2020 May; 21(10): 3468. Published online 2020 May 14. doi: 10.3390/ijms21103468

PMCID:: PMC7279049

Abstract Article PDF–12M

Select item 719003318.

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

Abstract Article PDF–1.2M

Select item 682384619.

BioID Performed on Golgi Enriched Fractions Identify C10orf76 as a GBF1 Binding Protein Essential for Golgi Maintenance and Secretion

Calvin J. Chan, Roberta Le, Kaylan Burns, Khadra Ahmed, Etienne Coyaud, Estelle M. N. Laurent, Brian Raught, Paul Melançon

Mol Cell Proteomics. 2019 Nov; 18(11): 2285–2297. Published online 2019 Sep 13. doi: 10.1074/mcp.RA119.001645

PMCID:: PMC6823846

Abstract Article PDF–2.2M

Select item 673229120.

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

Abstract Article PDF–468K

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