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Select item 110844481.

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism

Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek

Int J Mol Sci. 2024 May; 25(9): 5008. Published online 2024 May 3. doi: 10.3390/ijms25095008

PMCID:: PMC11084448

Abstract Article PDF–1.2M

Select item 107048112.

A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics

Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang

BMC Med Genomics. 2023; 16: 321. Published online 2023 Dec 8. doi: 10.1186/s12920-023-01759-6

PMCID:: PMC10704811

Abstract Article PDF–2.6M

Select item 105230533.

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

Abstract Article PDF–1.7M

Select item 103112764.

Spastin is required for human immunodeficiency virus-1 efficient replication through cooperation with the endosomal sorting complex required for transport (ESCRT) protein

Wenyuan Shen, Chang Liu, Yue Hu, Qian Ding, Jiabin Feng, Zhou Liu, Xiaohong Kong

Virol Sin. 2023 Jun; 38(3): 448–458. Published online 2023 May 11. doi: 10.1016/j.virs.2023.05.006

PMCID:: PMC10311276

Abstract Article PDF–1.7M

Select item 103004275.

Phosphorylation mutation impairs the promoting effect of spastin on neurite outgrowth without affecting its microtubule severing ability

Yunlong Zhang, Xin He, Jianyu Zou, Jie Yang, Ao Ma, Minghui Tan

Eur J Histochem. 2023 Jan 2; 67(1): 3594. Published online 2023 Jan 12. doi: 10.4081/ejh.2023.3594

PMCID:: PMC10300427

Abstract Article PDF–670K

Select item 100623956.

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler-Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K. Fink, Linsley Smith, Jennifer E. Posey, Katharine E. Alter, Camilo Toro, Craig Blackstone, Ariane G. Soldatos, Michelle Christie, Rebecca Schüle, Darius Ebrahimi-Fakhari

Mov Disord. Author manuscript; available in PMC 2023 Mar 30.

Published in final edited form as: Mov Disord. 2022 Dec; 37(12): 2440–2446. Published online 2022 Sep 14. doi: 10.1002/mds.29225

PMCID:: PMC10062395

Abstract Article PDF–558K

Select item 100182437.

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report

Xing-Chen Wang, Rui-Han Liu, Ting Wang, Yanling Wang, Yan Jiang, Dan-Dan Chen, Xin-Yu Wang, Tong-Shu Hou, Qing-Xia Kong

Mol Med Rep. 2023 Apr; 27(4): 79. Published online 2023 Feb 21. doi: 10.3892/mmr.2023.12966

PMCID:: PMC10018243

Abstract Article PDF–2.2M

Select item 93001328.

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics

Rui Chen, Shiyue Du, Yanyi Yao, Lu Zhang, Junyu Luo, Yinhua Shen, Zhenping Xu, Xiaomei Zeng, Luoying Zhang, Mugen Liu, Chuang Yin, Beisha Tang, Jun Tan, Xuan Xu, Jing Yu Liu

Mov Disord. 2022 Mar; 37(3): 598–607. Published online 2021 Dec 20. doi: 10.1002/mds.28885

PMCID:: PMC9300132

Abstract Article PDF–6.2M

Select item 86786249.

Different fusion tags affect the activity of ubiquitin overexpression on spastin protein stability

Jianyu Zou, Zhenbin Cai, Zhi Liang, Yaozhong Liang, Guowei Zhang, Jie Yang, Yunlong Zhang, Hongsheng Lin, Minghui Tan

Eur J Histochem. 2021 Nov 2; 65(4): 3352. Published online 2021 Dec 7. doi: 10.4081/ejh.2021.3352

PMCID:: PMC8678624

Abstract Article PDF–977K

Select item 829857210.

Evidence of mosaicism in SPAST variant carriers in four French families

Chloé Angelini, Cyril Goizet, Samia Ait Said, William Camu, Christel Depienne, Bénédicte Heron, Bophara Kol, Marine Guillaud-Bataille, Perrine Pennamen, Caroline Rooryck, Clarisse Scherer-Gagou, Laurène Tissier, Giovanni Stevanin, Eric Leguern, Guillaume Banneau

Eur J Hum Genet. 2021 Jul; 29(7): 1158–1163. Published online 2021 May 6. doi: 10.1038/s41431-021-00847-4

PMCID:: PMC8298572

Abstract Article PDF–682K

Select item 732007111.

ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic

James W. Connell, Rachel J. Allison, Catherine E. Rodger, Guy Pearson, Eliska Zlamalova, Evan Reid

Cell Mol Life Sci. 2020 Jul; 77(13): 2641–2658. Published online 2019 Oct 5. doi: 10.1007/s00018-019-03313-z

PMCID:: PMC7320071

Abstract Article PDF–11M

Select item 724974112.

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant

Héctor Cruz-Camino, Mercedes Vázquez-Cantú, Diana Laura Vázquez-Cantú, Jesús Santos-Guzmán, Antonio Bandala-Jacques, René Gómez-Gutiérrez, Consuelo Cantú-Reyna

Am J Case Rep. 2020; 21: e919463-1–e919463-5. Published online 2020 May 11. doi: 10.12659/AJCR.919463

PMCID:: PMC7249741

Abstract Article PDF–296K

Select item 691126813.

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

Aleksandra Klimkowicz-Mrowiec, Anna Dziubek, Malgorzata Sado, Marek Karpiński, Agnieszka Gorzkowska

BMC Neurol. 2019; 19: 322. Published online 2019 Dec 14. doi: 10.1186/s12883-019-1561-6

PMCID:: PMC6911268

Abstract Article PDF–591K

Select item 553754614.

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

Viorica Chelban, Arianna Tucci, David S Lynch, James M Polke, Liana Santos, Hallgeir Jonvik, Stanislav Groppa, Nicholas W Wood, Henry Houlden

J Neurol Neurosurg Psychiatry. 2017 Aug; 88(8): 681–687. Published online 2017 Jun 1. doi: 10.1136/jnnp-2017-315796

PMCID:: PMC5537546

Abstract Article PDF–1.1M

Select item 549118115.

Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin

Joanna M. Solowska, Anand N. Rao, Peter W. Baas

Mol Biol Cell. 2017 Jul 1; 28(13): 1728–1737. doi: 10.1091/mbc.E17-01-0047

PMCID:: PMC5491181

Abstract Article PDF–2.7M

Select item 498920916.

A polymorphic Alu insertion that mediates distinct disease-associated deletions

Amir Jahic, Anne K Erichsen, Thomas Deufel, Chantal M Tallaksen, Christian Beetz

Eur J Hum Genet. 2016 Aug; 24(9): 1371–1374. Published online 2016 Mar 2. doi: 10.1038/ejhg.2016.20

PMCID:: PMC4989209

Abstract Article PDF–1.1M

Select item 488251217.

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia

Gautam Wali, Ratneswary Sutharsan, Yongjun Fan, Romal Stewart, Johana Tello Velasquez, Carolyn M Sue, Denis I. Crane, Alan Mackay-Sim

Sci Rep. 2016; 6: 27004. Published online 2016 May 27. doi: 10.1038/srep27004

PMCID:: PMC4882512

Abstract Article PDF–2.0M

Select item 464362218.

Hereditary spastic paraplegia SPG4: what is known and not known about the disease

Joanna M. Solowska, Peter W. Baas

Brain. 2015 Sep; 138(9): 2471–2484. Published online 2015 Jun 20. doi: 10.1093/brain/awv178

PMCID:: PMC4643622

Abstract Article PDF–689K

Select item 412940519.

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Philip M. Boone, Bo Yuan, Ian M. Campbell, Jennifer C. Scull, Marjorie A. Withers, Brett C. Baggett, Christine R. Beck, Christine J. Shaw, Pawel Stankiewicz, Paolo Moretti, Wendy E. Goodwin, Nichole Hein, John K. Fink, Moon-Woo Seong, Soo Hyun Seo, Sung Sup Park, Izabela D. Karbassi, Sat Dev Batish, Andrés Ordóñez-Ugalde, Beatriz Quintáns, María-Jesús Sobrido, Susanne Stemmler, James R. Lupski

Am J Hum Genet. 2014 Aug 7; 95(2): 143–161. doi: 10.1016/j.ajhg.2014.06.014

PMCID:: PMC4129405

Abstract Article PDF–4.0M

Select item 399015620.

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons

Steven Havlicek, Zacharias Kohl, Himanshu K. Mishra, Iryna Prots, Esther Eberhardt, Naime Denguir, Holger Wend, Sonja Plötz, Leah Boyer, Maria C.N. Marchetto, Stefan Aigner, Heinrich Sticht, Teja W. Groemer, Ute Hehr, Angelika Lampert, Ursula Schlötzer-Schrehardt, Jürgen Winkler, Fred H. Gage, Beate Winner

Hum Mol Genet. 2014 May 15; 23(10): 2527–2541. Published online 2013 Dec 30. doi: 10.1093/hmg/ddt644

PMCID:: PMC3990156

Abstract Article PDF–2.3M

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PMC Links for Gene (Select 6683) (99)
PMC
SPAST[gene] (1397)
ClinVar
RecName: Full=Spastin; AltName: Full=Spastic paraplegia 4 protein
RecName: Full=Spastin; AltName: Full=Spastic paraplegia 4 protein
gi|12230611|sp|Q9UBP0.1|SPAST_HUMAN

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