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Select item 91503601.

A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports

Shan Wang, Yaye Wang, Yue Wu, Jinru Zhang, Weilin Zhang, Chang Li, Xueqin Song

BMC Neurol. 2022; 22: 200. Published online 2022 May 30. doi: 10.1186/s12883-022-02706-1

PMCID:: PMC9150360

Abstract Article PDF–2.0M

Select item 74193732.

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

Alma Osmanovic, Maylin Widjaja, Alisa Förster, Julia Weder, Mike P. Wattjes, Inken Lange, Anastasia Sarikidi, Bernd Auber, Peter Raab, Anne Christians, Matthias Preller, Susanne Petri, Ruthild G. Weber

J Neurol. 2020; 267(9): 2732–2743. Published online 2020 May 23. doi: 10.1007/s00415-020-09861-w

PMCID:: PMC7419373

Abstract Article PDF–3.2M

Select item 66354433.

SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca²⁺ influx, and regulation of mitochondrial permeability transition pore opening

Stephen Hurst, Ariele Baggett, Gyorgy Csordas, Shey-Shing Sheu

J Biol Chem. 2019 Jul 12; 294(28): 10807–10818. Published online 2019 May 16. doi: 10.1074/jbc.RA118.006443

PMCID:: PMC6635443

Abstract Article PDF–3.5M

Select item 65560954.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Giulia Coarelli, Rebecca Schule, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Ludger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D'Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstock, Fanny Mochel, Elisabeth Ollagnon-Roman, Marc D'Hooghe, Christoph Kamm, Delia Kurzwelly, Melanie Papin, Claire-Sophie Davoine, Guillaume Banneau, Sophie Tezenas du Montcel, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Giovanni Stevanin, Alexandra Durr

Neurology. 2019 Jun 4; 92(23): e2679–e2690. doi: 10.1212/WNL.0000000000007606

PMCID:: PMC6556095

Abstract Article PDF–1.0M

Select item 50708915.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie- Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau, Care4Rare Canada Consortium, Kym M Boycott, Jacek Majewski, Bernard Brais

Eur J Hum Genet. 2016 Jul; 24(7): 1016–1021. Published online 2015 Dec 2. doi: 10.1038/ejhg.2015.240

PMCID:: PMC5070891

Abstract Article PDF–1.0M

Select item 46327896.

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik

Int J Mol Sci. 2015 Oct; 16(10): 25050–25066. Published online 2015 Oct 21. doi: 10.3390/ijms161025050

PMCID:: PMC4632789

Abstract Article PDF–7.6M

Select item 43714117.

SPG7 mutations are a common cause of undiagnosed ataxia

Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou, Rita Horvath, Andrea Németh, Patrick F. Chinnery

Neurology. 2015 Mar 17; 84(11): 1174–1176. doi: 10.1212/WNL.0000000000001369

Correction in:: Neurology. 2015 May 5; 84(18): 1911.

PMCID:: PMC4371411

Article PDF–349K

Select item 39997228.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Gerald Pfeffer, Gráinne S Gorman, Helen Griffin, Marzena Kurzawa-Akanbi, Emma L. Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L. Murphy, Charlotte L. Alston, Angela Pyle, Jon Coxhead, Brendan Payne, George H. Gorrie, Cheryl Longman, Marios Hadjivassiliou, John McConville, David Dick, Ibrahim Imam, David Hilton, Fiona Norwood, Mark R. Baker, Stephan R. Jaiser, Patrick Yu-Wai-Man, Michael Farrell, Allan McCarthy, Timothy Lynch, Robert McFarland, Andrew M. Schaefer, Douglass M. Turnbull, Rita Horvath, Robert W. Taylor, Patrick F. Chinnery

Brain. 2014 May; 137(5): 1323–1336. Published online 2014 Apr 10. doi: 10.1093/brain/awu060

PMCID:: PMC3999722

Abstract Article PDF–1.4M

Select item 34707149.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F. Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Sole, Alain Destée, Jean-Michel Mayer, Bertrand Fontaine, Jérôme de Seze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stevanin, Josseline Kaplan, Jean-Michel Rozet, Alexis Brice, Alexandra Durr

Brain. 2012 Oct; 135(10): 2980–2993. Published online 2012 Oct 11. doi: 10.1093/brain/aws240

PMCID:: PMC3470714

Abstract Article PDF–1004K

Select item 273446610.

Crystal Structure of the ATPase Domain of the Human AAA+ Protein Paraplegin/SPG7

Tobias Karlberg, Susanne van den Berg, Martin Hammarström, Johanna Sagemark, Ida Johansson, Lovisa Holmberg-Schiavone, Herwig Schüler

PLoS One. 2009; 4(10): e6975. Published online 2009 Oct 20. doi: 10.1371/journal.pone.0006975

PMCID:: PMC2734466

Abstract Article PDF–544K

Select item 137725111.

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.

G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, A Monticelli, A Ballabio, G Casari, S Cocozza

Am J Hum Genet. 1998 Jul; 63(1): 135–139. doi: 10.1086/301930

PMCID:: PMC1377251

Summary PDF–329K

Select item 755335212.

Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia

Irene Sambri, Filomena Massa, Francesca Gullo, Simone Meneghini, Laura Cassina, Michela Carraro, Giorgia Dina, Angelo Quattrini, Lorenzo Patanella, Annamaria Carissimo, Antonella Iuliano, Filippo Santorelli, Franca Codazzi, Fabio Grohovaz, Paolo Bernardi, Andrea Becchetti, Giorgio Casari

EBioMedicine. 2020 Nov; 61: 103050. Published online 2020 Oct 9. doi: 10.1016/j.ebiom.2020.103050

PMCID:: PMC7553352

Abstract Article PDF–4.8M

Select item 334136513.

Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum

Giuseppe Mancuso, Esther Barth, Pietro Crivello, Elena I. Rugarli

PLoS One. 2012; 7(5): e36337. Published online 2012 May 1. doi: 10.1371/journal.pone.0036337

PMCID:: PMC3341365

Abstract Article PDF–3.0M

Select item 289676914.

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Pablo Lapunzina, Mona Aglan, Samia Temtamy, José A. Caparrós-Martín, Maria Valencia, Rocío Letón, Victor Martínez-Glez, Rasha Elhossini, Khalda Amr, Nuria Vilaboa, Victor L. Ruiz-Perez

Am J Hum Genet. 2010 Jul 9; 87(1): 110–114. doi: 10.1016/j.ajhg.2010.05.016

PMCID:: PMC2896769

Abstract Article PDF–370K

Select item 131202015.

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia

Marinella Pirozzi, Angelo Quattrini, Gennaro Andolfi, Giorgia Dina, Maria Chiara Malaguti, Alberto Auricchio, Elena I. Rugarli

J Clin Invest. 2006 Jan 4; 116(1): 202–208. Published online 2005 Dec 15. doi: 10.1172/JCI26210

Correction in:: J Clin Invest. 2014 Feb 3; 124(2): 871.

PMCID:: PMC1312020

Abstract Article PDF–812K

Select item 2506016.

Genomic and cDNA sequence analysis of the cell matrix adhesion regulator gene

H. Durbin, M. R. Novelli, W. F. Bodmer

Proc Natl Acad Sci U S A. 1997 Dec 23; 94(26): 14578–14583. doi: 10.1073/pnas.94.26.14578

PMCID:: PMC25060

Abstract Article PDF–430K

Select item 541079617.

Proteolytic control of the mitochondrial calcium uniporter complex

Chen-Wei Tsai, Yujiao Wu, Ping-Chieh Pao, Charles B. Phillips, Carole Williams, Christopher Miller, Matthew Ranaghan, Ming-Feng Tsai

Proc Natl Acad Sci U S A. 2017 Apr 25; 114(17): 4388–4393. Published online 2017 Apr 10. doi: 10.1073/pnas.1702938114

PMCID:: PMC5410796

Abstract Article PDF–1.2M

Select item 274464618.

An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases

Steffen Augustin, Florian Gerdes, Sukyeong Lee, Francis T.F. Tsai, Thomas Langer, Takashi Tatsuta

Mol Cell. Author manuscript; available in PMC 2010 Sep 11.

Published in final edited form as: Mol Cell. 2009 Sep 11; 35(5): 574–585. doi: 10.1016/j.molcel.2009.07.018

PMCID:: PMC2744646

Abstract Article PDF–2.9M

Select item 217368219.

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

Luigia Atorino, Laura Silvestri, Mirko Koppen, Laura Cassina, Andrea Ballabio, Roberto Marconi, Thomas Langer, Giorgio Casari

J Cell Biol. 2003 Nov 24; 163(4): 777–787. doi: 10.1083/jcb.200304112

PMCID:: PMC2173682

Abstract Article PDF–384K

Select item 459247520.

SPG7 is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore

Santhanam Shanmughapriya, Sudarsan Rajan, Nicholas E. Hoffman, Andrew M. Higgins, Dhanendra Tomar, Neeharika Nemani, Kevin J. Hines, Dylan J. Smith, Akito Eguchi, Sandhya Vallem, Farah Shaikh, Maggie Cheung, Nicole J. Leonard, Ryan S. Stolakis, Matthew P. Wolfers, Jessica Ibetti, J. Kurt Chuprun, Neelakshi R. Jog, Steven R. Houser, Walter J. Koch, John W. Elrod, Muniswamy Madesh

Mol Cell. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Mol Cell. 2015 Oct 1; 60(1): 47–62. Published online 2015 Sep 17. doi: 10.1016/j.molcel.2015.08.009

PMCID:: PMC4592475

Abstract Article PDF–3.5M

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