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Items: 1 to 20 of 61

1.
MitCHAP-60 and Hereditary Spastic Paraplegia SPG-13 Arise from an Inactive hsp60 Chaperonin that Fails to Fold the ATP Synthase β-Subunit
Jinliang Wang, Adrian S. Enriquez, Jihui Li, Alejandro Rodriguez, Bianka Holguin, Daniel Von Salzen, Jay M. Bhatt, Ricardo A. Bernal
Sci Rep. 2019; 9: 12300. Published online 2019 Aug 23. doi: 10.1038/s41598-019-48762-5
PMCID:
PMC6707239
AbstractArticlePDF–3.2M
2.
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants
Yuki Miyamoto, Funakoshi-Tago Megumi, Nanami Hasegawa, Takahiro Eguchi, Akito Tanoue, Hiroomi Tamura, Junji Yamauchi
Data Brief. 2016 Mar; 6: 482–488. Published online 2016 Jan 4. doi: 10.1016/j.dib.2015.12.038
PMCID:
PMC4716458
AbstractArticlePDF–5.6M
3.
The Hsp60-(p.V98I) Mutation Associated with Hereditary Spastic Paraplegia SPG13 Compromises Chaperonin Function Both in Vitro and in Vivo
Peter Bross, Søren Naundrup, Jakob Hansen, Marit Nyholm Nielsen, Jane Hvarregaard Christensen, Mogens Kruhøffer, Johan Palmfeldt, Thomas Juhl Corydon, Niels Gregersen, Debbie Ang, Costa Georgopoulos, Kåre Lehmann Nielsen
J Biol Chem. 2008 Jun 6; 283(23): 15694–15700. doi: 10.1074/jbc.M800548200
PMCID:
PMC3259655
AbstractArticlePDF–313K
4.
Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60
Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu-Rebeix, Costa Georgopoulos, Debbie Ang, Marit Nyholm Nielsen, Claire-Sophie Davoine, Alexis Brice, Bertrand Fontaine, Niels Gregersen, Peter Bross
Am J Hum Genet. 2002 May; 70(5): 1328–1332. Published online 2002 Mar 15. doi: 10.1086/339935
PMCID:
PMC447607
AbstractArticlePDF–205K
5.
Hereditary spastic paraplegia SPG13 mutation increases structural stability and ATPase activity of human mitochondrial chaperonin
Lingling Chen, Aiza Syed, Adhitya Balaji
Sci Rep. 2022; 12: 18321. Published online 2022 Oct 31. doi: 10.1038/s41598-022-21993-9
PMCID:
PMC9622745
AbstractArticlePDF–1.5M
6.
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
Vincenzo Antona, Federica Scalia, Elisa Giorgio, Francesca C. Radio, Alfredo Brusco, Massimiliano Oliveri, Giovanni Corsello, Fabrizio Lo Celso, Maria Vadalà, Everly Conway de Macario, Alberto J. L. Macario, Francesco Cappello, Mario Giuffrè
Int J Mol Sci. 2020 Oct; 21(20): 7631. Published online 2020 Oct 15. doi: 10.3390/ijms21207631
PMCID:
PMC7589105
AbstractArticlePDF–1.3M
7.
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy
Cagla Cömert, Lauren Brick, Debbie Ang, Johan Palmfeldt, Brandon F. Meaney, Mariya Kozenko, Costa Georgopoulos, Paula Fernandez-Guerra, Peter Bross
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a004879. doi: 10.1101/mcs.a004879
PMCID:
PMC7304351
AbstractArticlePDF–4.2M
8.
Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy
Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel
Am J Hum Genet. 2008 Jul 11; 83(1): 30–42. Published online 2008 Jul 3. doi: 10.1016/j.ajhg.2008.05.016
PMCID:
PMC2443844
AbstractArticlePDF–624K
9.
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
John K. Fink
Acta Neuropathol. Author manuscript; available in PMC 2014 Jun 4.
Published in final edited form as: Acta Neuropathol. 2013 Sep; 126(3): 307–328. Published online 2013 Jul 30. doi: 10.1007/s00401-013-1115-8
PMCID:
PMC4045499
AbstractArticlePDF–458K
10.
Upregulation of the mitochondrial Lon Protease allows adaptation to acute oxidative stress but dysregulation is associated with chronic stress, disease, and aging
Jenny K. Ngo, Laura C.D. Pomatto, Kelvin J.A. Davies
Redox Biol. 2013; 1(1): 258–264. Published online 2013 Feb 9. doi: 10.1016/j.redox.2013.01.015
PMCID:
PMC3757690
AbstractArticlePDF–232K
11.
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
Brain. 2024 Jul; 147(7): 2334–2343. Published online 2024 Mar 25. doi: 10.1093/brain/awae091
PMCID:
PMC11224604
AbstractArticlePDF–745K
12.
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras, Philipp Arnold, Thanos Tsaktanis, Kathryn Scherpelz, Marie Y. Davis, Johanna Kaindl, Iris Stolzer, Patrick Süß, Mukhran Khundadze, Christian A. Hübner, Markus J. Riemenschneider, Jonathan Baets, Claudia Günther, Suman Jayadev, Veit Rothhammer, Florian Krach, Jürgen Winkler, Beate Winner, Martin Regensburger
Acta Neuropathol. 2024; 147(1): 28. Published online 2024 Feb 2. doi: 10.1007/s00401-023-02675-w
PMCID:
PMC10837238
AbstractArticlePDF–4.3M
13.
Harel-Yoon综合征一家系临床表型及ATAD3A基因变异分析
郑 祎, 于 欣雨, 张 婷, 胡 凌微, 周 朵, 黄 新文
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 738–743. Chinese. Published online 2023 Dec 7. doi: 10.3724/zdxbyxb-2023-0421
PMCID:
PMC10764186
AbstractArticlePDF–1.7M
14.
Cooperative lipolytic control of neuronal triacylglycerol by spastic paraplegia-associated enzyme DDHD2 and ATGL
Peter Hofer, Gernot F. Grabner, Mario König, Hao Xie, Dominik Bulfon, Anton E. Ludwig, Heimo Wolinski, Robert Zimmermann, Rudolf Zechner, Christoph Heier
J Lipid Res. 2023 Nov; 64(11): 100457. Published online 2023 Oct 11. doi: 10.1016/j.jlr.2023.100457
PMCID:
PMC10665947
AbstractArticlePDF–3.4M
15.
Amplifying the spectrum of SPAST gene mutations
Lorenzo Verriello, Incoronata Renata Lonigro, Maria Elena Pessa, Elena Betto, Giada Pauletto, Federico Fogolari, Gian Luigi Gigli, Francesco Curcio
Acta Biomed. 2021; 92(Suppl 1): e2021220. Published online 2021 Nov 4. doi: 10.23750/abm.v92iS1.11608
PMCID:
PMC10523053
AbstractArticlePDF–1.7M
16.
Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2
Xun Zhou, Yige Wang, Runcheng He, Zhenhua Liu, Qian Xu, Jifeng Guo, Xinxiang Yan, Jinchen Li, Beisha Tang, Sheng Zeng, Qiying Sun
Ann Clin Transl Neurol. 2023 Sep; 10(9): 1590–1602. Published online 2023 Jul 20. doi: 10.1002/acn3.51848
PMCID:
PMC10502680
AbstractArticlePDF–1.7M
17.
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder
Martje G. Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Int J Mol Sci. 2023 Feb; 24(3): 1874. Published online 2023 Jan 18. doi: 10.3390/ijms24031874
PMCID:
PMC9953040
AbstractArticlePDF–3.8M
18.
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia
Valeriia A. Kovalskaia, Victoriia V. Zabnenkova, Marina S. Petukhova, Zhanna G. Markova, Vyacheslav Yu. Tabakov, Oxana P. Ryzhkova
Genes (Basel) 2022 Dec; 13(12): 2186. Published online 2022 Nov 23. doi: 10.3390/genes13122186
PMCID:
PMC9778407
AbstractArticlePDF–3.8M
19.
Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)
Tobias Lindig, Benjamin Bender, Eva Bürkle, Vinod Kumar, Ulrike Ernemann, Ludger Schöls, Tim W. Rattay
Sci Rep. 2022; 12: 22075. Published online 2022 Dec 21. doi: 10.1038/s41598-022-25545-z
PMCID:
PMC9772173
AbstractArticlePDF–1.4M
20.
Functional Validation Of Novel Variants In B4GALNT1 Associated With Early-Onset Complex Hereditary Spastic Paraplegia With Impaired Ganglioside Synthesis
Julian E. Alecu, Yuhsuke Ohmi, Robiul H. Bhuiyan, Kei-ichiro Inamori, Takahiro Nitta, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Claudio Melo de Gusmao, Nutan Sharma, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Mariko Kambe, Keiko Furukawa, Mustafa Sahin, Jin-ichi Inokuchi, Koichi Furakawa, Darius Ebrahimi-Fakhari
Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.
Published in final edited form as: Am J Med Genet A. 2022 Sep; 188(9): 2590–2598. Published online 2022 Jul 1. doi: 10.1002/ajmg.a.62880
PMCID:
PMC9378512
AbstractArticlePDF–663K

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