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Select item 106219961.

Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1

Alexandre Pierga, Raphaël Matusiak, Margaux Cauhapé, Julien Branchu, Lydia Danglot, Maxime Boutry, Frédéric Darios

PLoS Biol. 2023 Oct; 21(10): e3002337. Published online 2023 Oct 23. doi: 10.1371/journal.pbio.3002337

PMCID:: PMC10621996

Abstract Article PDF–9.2M

Select item 99224682.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Abstract Article PDF–4.9M

Select item 96938163.

Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia

Martin Regensburger, Laura Krumm, Manuel Alexander Schmidt, Andreas Schmid, Imke Tabea Spatz, Dominique Cornelius Marterstock, Christoph Kopp, Zacharias Kohl, Arnd Doerfler, Thomas Karrasch, Beate Winner, Jürgen Winkler

Nutrients. 2022 Nov; 14(22): 4803. Published online 2022 Nov 13. doi: 10.3390/nu14224803

PMCID:: PMC9693816

Abstract Article PDF–2.3M

Select item 90375544.

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 87489585.

EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation

Liyuan Wang, Chan Chen, Zemin Song, Honghong Wang, Minghui Ye, Donghai Wang, Wenqian Kang, Hudan Liu, Guoliang Qing

Nat Commun. 2022; 13: 12. Published online 2022 Jan 10. doi: 10.1038/s41467-021-27609-6

PMCID:: PMC8748958

Abstract Article PDF–3.0M

Select item 85275786.

An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity

Yuehui Zhang, Limin Shang, Jing Zhang, Yuchen Liu, Chaozhi Jin, Yanan Zhao, Xiaobo Lei, Wenjing Wang, Xia Xiao, Xiuyuan Zhang, Yujiao Liu, Linlin Liu, Meng-Wei Zhuang, Qingkun Mi, Chunyan Tian, Jianwei Wang, Fuchu He, Pei-Hui Wang, Jian Wang

Cell Chem Biol. 2022 Jan 20; 29(1): 5–18.e6. Published online 2021 Oct 20. doi: 10.1016/j.chembiol.2021.10.008

PMCID:: PMC8527578

Abstract Article PDF–4.5M

Select item 83128867.

A novel variant in the spatacsin gene causing SPG11 in a Malian family

Guida Landouré, Kékouta Dembélé, Lassana Cissé, Salimata Diarra, Oumar Samassékou, Abdoulaye Bocoum, Abdoulaye Yalcouyé, Moussa Traoré, Kenneth H. Fischbeck, Cheick O. Guinto, The H3Africa Consortium

J Neurol Sci. Author manuscript; available in PMC 2021 Jul 26.

Published in final edited form as: J Neurol Sci. 2020 Apr 15; 411: 116675. Published online 2020 Jan 7. doi: 10.1016/j.jns.2020.116675

PMCID:: PMC8312886

Article PDF–494K

Select item 82125188.

Circ-SPG11 knockdown hampers IL-1β-induced osteoarthritis progression via targeting miR-337-3p/ADAMTS5

Yongqiang Liu, Qian Li, Zhida Gao, Fang Lei, Xuefeng Gao

J Orthop Surg Res. 2021; 16: 392. Published online 2021 Jun 17. doi: 10.1186/s13018-021-02526-y

PMCID:: PMC8212518

Abstract Article PDF–3.0M

Select item 81650309.

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 796465310.

Microstructural Integrity of Cerebral Fiber Tracts in Hereditary Spastic Paraparesis with SPG11 Mutation

M.-K. Pan, S.-C. Huang, Y.-C. Lo, Chih-Chao Yang, T.-W. Cheng, Chi-Cheng Yang, M.-S. Hua, M.-J. Lee, W.-Y.I. Tseng

AJNR Am J Neuroradiol. 2013 May; 34(5): 990–996. doi: 10.3174/ajnr.A3330

PMCID:: PMC7964653

Abstract Article PDF–2.0M

Select item 756688111.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 733676512.

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

Marzieh Khani, Hosein Shamshiri, Farzad Fatehi, Mohammad Rohani, Bahram Haghi Ashtiani, Fahimeh Haji Akhoundi, Afagh Alavi, Hamidreza Moazzeni, Hanieh Taheri, Mina Tolou Ghani, Leila Javanparast, Seyyed Saleh Hashemi, Ramona Haji‐Seyed‐Javadi, Matineh Heidari, Shahriar Nafissi, Elahe Elahi

Mol Genet Genomic Med. 2020 Jul; 8(7): e1240. Published online 2020 May 8. doi: 10.1002/mgg3.1240

PMCID:: PMC7336765

Abstract Article PDF–1.5M

Select item 725487313.

Clinical Heterogeneity and Genotype Phenotype correlations in Hereditary Spastic Paraplegia (HSP) due to Spatacsin mutations (SPG11)

Coro Paisan-Ruiz, Priti Nath, Nick W. Wood, Andrew Singleton, Henry Houlden

Eur J Neurol. Author manuscript; available in PMC 2020 May 28.

Published in final edited form as: Eur J Neurol. 2008 Oct; 15(10): 1065–1070. Published online 2008 Aug 20. doi: 10.1111/j.1468-1331.2008.02247.x

PMCID:: PMC7254873

Abstract Article PDF–842K

Select item 694124714.

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11

Xueping Chen, Jiao Liu, Qian-Qian Wei, Ru Wei Ou, Bei Cao, Xiaoqin Yuan, Yanbing Hou, Lingyu Zhang, Huifang Shang

BMC Neurol. 2020; 20: 2. Published online 2020 Jan 3. doi: 10.1186/s12883-019-1593-y

PMCID:: PMC6941247

Abstract Article PDF–529K

Select item 677813715.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 628768216.

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

Chiara Vantaggiato, Elena Panzeri, Marianna Castelli, Andrea Citterio, Alessia Arnoldi, Filippo Maria Santorelli, Rocco Liguori, Marina Scarlato, Olimpia Musumeci, Antonio Toscano, Emilio Clementi, Maria Teresa Bassi

Autophagy. 2019; 15(1): 34–57. Published online 2018 Sep 13. doi: 10.1080/15548627.2018.1507438

PMCID:: PMC6287682

Abstract Article PDF–5.5M

Select item 604577517.

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Maxime Boutry, Julien Branchu, Céline Lustremant, Claire Pujol, Julie Pernelle, Raphaël Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine Caillaud, Alexandra Durr, Alexis Brice, Benoit Colsch, Fanny Mochel, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios

Cell Rep. 2018 Jun 26; 23(13): 3813–3826. Published online 2003 Jul 22. doi: 10.1016/j.celrep.2018.05.098

PMCID:: PMC6045775

Abstract Article

Select item 600828418.

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

Ingrid Faber, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Carlos Roberto Martins, Jr., Melina Pazian Martins, Charles Marques Lourenço, Wilson Marques, Jr., Celeste Montecchiani, Antonio Orlacchio, Jose Luiz Pedroso, Orlando Graziani Povoas Barsottini, Íscia Lopes-Cendes, Marcondes Cavalcante França, Jr.

Neuroimage Clin. 2018; 19: 848–857. Published online 2018 Jun 9. doi: 10.1016/j.nicl.2018.05.031

PMCID:: PMC6008284

Abstract Article PDF–1.0M

Select item 600570519.

Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations

Coro Paisán-Ruiz, Rocio Guevara, Monica Federoff, Hasmet Hanagasi, Fardaz Sina, Elahe Elahi, Susanne A. Schneider, Petra Schwingenschuh, Nin Bajaj, Murat Emre, Andrew B. Singleton, John Hardy, Kailash P. Bhatia, Sebastian Brandner, Andrew J. Lees, Henry Houlden

Mov Disord. Author manuscript; available in PMC 2018 Jun 18.

Published in final edited form as: Mov Disord. 2010 Sep 15; 25(12): 1791–1800. doi: 10.1002/mds.23221

PMCID:: PMC6005705

Abstract Article PDF–525K

Select item 583955420.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Abstract Article PDF–1.4M

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