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Select item 96938161.

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 83128862.

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 79646533.

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 73367654.

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 72548735.

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 69412476.

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 60082847.

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 58395548.

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

Select item 51110129.

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11

Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001248. doi: 10.1101/mcs.a001248

PMCID:: PMC5111012

Abstract Article PDF–967K

Select item 506590310.

Severe axonal neuropathy is a late manifestation of SPG11

Andreea Manole, Viorica Chelban, Nourelhoda A. Haridy, Sherifa A. Hamed, Andrés Berardo, Mary M. Reilly, Henry Houlden

J Neurol. 2016; 263(11): 2278–2286. Published online 2016 Aug 20. doi: 10.1007/s00415-016-8254-5

PMCID:: PMC5065903

Abstract Article PDF–3.1M

Select item 493969511.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew B. Singleton, John Hardy, Nicholas W. Wood, Patrick A. Lewis, Henry Houlden

Brain. 2016 Jul; 139(7): 1904–1918. Published online 2016 May 23. doi: 10.1093/brain/aww111

PMCID:: PMC4939695

Abstract Article PDF–1.8M

Select item 489185212.

A case report of SPG11 mutations in a Chinese ARHSP-TCC family

Linwei Zhang, Karen N. McFarland, Jinsong Jiao, Yujuan Jiao

BMC Neurol. 2016; 16: 87. Published online 2016 Jun 3. doi: 10.1186/s12883-016-0604-5

PMCID:: PMC4891852

Abstract Article PDF–1.1M

Select item 307337613.

Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum

Alice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, Jennifer Silhavy, Stephanie L. Bielas, Shifteh Sattar, Joseph G. Gleeson, Maha Zaki

Eur J Med Genet. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Eur J Med Genet. 2011 Jan–Feb; 54(1): 82–85. Published online 2010 Nov 12. doi: 10.1016/j.ejmg.2010.10.006

PMCID:: PMC3073376

Abstract Article PDF–439K

Select item 282262714.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, Roberto Massa, Sarenur Basaran, Renato P. Munhoz, Ekaterina A. Rogaeva, Peter H. St George-Hyslop, Giorgio Bernardi, Toshitaka Kawarai

Brain. 2010 Feb; 133(2): 591–598. Published online 2010 Jan 28. doi: 10.1093/brain/awp325

PMCID:: PMC2822627

Abstract Article PDF–729K

Select item 273002115.

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia (HSP)

Coro Paisan-Ruiz, Okan Dogu, Arda Yilmaz, Henry Houlden, Andrew Singleton

Neurology. Author manuscript; available in PMC 2009 Aug 21.

Published in final edited form as: Neurology. 2008 Apr 15; 70(16 Pt 2): 1384–1389. Published online 2008 Mar 12. doi: 10.1212/01.wnl.0000294327.66106.3d

PMCID:: PMC2730021

Abstract Article PDF–37K

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 294495917.

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

Laura Southgate, Dimitra Dafou, Jacqueline Hoyle, Nan Li, Esther Kinning, Peter Critchley, Andrea H. Németh, Kevin Talbot, Parayil S. Bindu, Sanjib Sinha, Arun B. Taly, Seetharam Raghavendra, Ferenc Müller, Eamonn R. Maher, Richard C. Trembath

Neurogenetics. 2010; 11(4): 379–389. Published online 2010 Apr 14. doi: 10.1007/s10048-010-0243-8

PMCID:: PMC2944959

Abstract Article PDF–915K

Select item 821251818.

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 374494819.

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

Jennifer Hirst, Georg H. H. Borner, James Edgar, Marco Y. Hein, Matthias Mann, Frank Buchholz, Robin Antrobus, Margaret S. Robinson

Mol Biol Cell. 2013 Aug 15; 24(16): 2558–2569. doi: 10.1091/mbc.E13-03-0170

PMCID:: PMC3744948

Abstract Article PDF–7.1M

Select item 604577520.

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

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