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ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic
Author / Creator:Connell, James W. ; Allison, Rachel J. ; Rodger, Catherine E. ; Pearson, Guy ; Zlamalova, Eliska ; Reid, Evan
Publisher:Cham: Springer International Publishing
Journal title:Cellular and molecular life sciences : CMLS, 2020-07, Vol.77 (13), p.2641-2658
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Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation
Author / Creator:Luo, Min ; Wang, Yanying ; Liang, Jinxiu ; Wan, Xinhua
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2024-09, Vol.22 (1), p.872-12, Article 872
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A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
Author / Creator:Wang, Jie ; Wu, Yihan ; Dong, Hong ; Ji, Yunpeng ; Zhang, Lichun ; Liu, Yaxian ; Liu, Yueshi ; Gao, Xin ; Jia, Yueqi ; Wang, Xiaohua
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2023-12, Vol.16 (1), p.321-321, Article 321
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Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias
Author / Creator:Morais, Sara ; Raymond, Laure ; Mairey, Mathilde ; Coutinho, Paula ; Brandão, Eva ; Ribeiro, Paula ; Loureiro, José Leal ; Sequeiros, Jorge ; Brice, Alexis ; Alonso, Isabel ; Stevanin, Giovanni
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1217-1228
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Spastin mutations impair coordination between lipid droplet dispersion and reticulum
Author / Creator:Arribat, Yoan ; Grepper, Dogan ; Lagarrigue, Sylviane ; Qi, Timothy ; Cohen, Sarah ; Amati, Francesca
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-04, Vol.16 (4), p.e1008665-e1008665
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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Author / Creator:Degoutin, Manon ; Angelini, Chloé ; Bar, Claire ; El Khedoud, Wahiba Amer ; Barnerias, Christine ; Boulariah‐Hadjou, Razika ; Estiar, Mehrdad A. ; Ewenczyk, Claire ; Gan‐Or, Ziv ; Lacombe, Didier ; Lefeuvre, Claire ; Majethia, Purvi ; Messaoud‐Khelifi, Mouna ; Narayanan, Dhanya Lakshmi ; Rouleau, Guy A. ; Suchowersky, Oksana ; Shukla, Anju ; Guillaud‐Bataille, Marine ; Stevanin, Giovanni ; Goizet, Cyril
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2025-01, Vol.32 (1), p.e70025-n/a
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SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Author / Creator:Elert-Dobkowska, Ewelina ; Stepniak, Iwona ; Radziwonik-Fraczyk, Wiktoria ; Jahic, Amir ; Beetz, Christian ; Sulek, Anna
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-05, Vol.25 (9), p.5008
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A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population
Author / Creator:Sadr, Zahra ; Zare-Abdollahi, Davood ; Rohani, Mohammad ; Alavi, Afagh
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2023-07, Vol.44 (7), p.2599-2602
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Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland
Author / Creator:Leighton, Danielle J. ; Ansari, Morad ; Newton, Judith ; Parry, David ; Cleary, Elaine ; Colville, Shuna ; Stephenson, Laura ; Larraz, Juan ; Johnson, Micheala ; Beswick, Emily ; Wong, Michael ; Gregory, Jenna ; Carod Artal, Javier ; Davenport, Richard ; Duncan, Callum ; Morrison, Ian ; Smith, Colin ; Swingler, Robert ; Deary, Ian J. ; Porteous, Mary ; Aitman, Timothy J. ; Chandran, Siddharthan ; Gorrie, George H. ; Pal, Suvankar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-03, Vol.270 (3), p.1702-1712
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Designing a chemical inhibitor for the AAA protein spastin using active site mutations
Author / Creator:Cupido, Tommaso ; Pisa, Rudolf ; Kelley, Megan E. ; Kapoor, Tarun M.
Publisher:New York: Nature Publishing Group US
Journal title:Nature chemical biology, 2019-05, Vol.15 (5), p.444-452
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Evidence of mosaicism in SPAST variant carriers in four French families
Author / Creator:Angelini, Chloé ; Goizet, Cyril ; Said, Samia Ait ; Camu, William ; Depienne, Christel ; Heron, Bénédicte ; Kol, Bophara ; Guillaud-Bataille, Marine ; Pennamen, Perrine ; Rooryck, Caroline ; Scherer-Gagou, Clarisse ; Tissier, Laurène ; Stevanin, Giovanni ; Leguern, Eric ; Banneau, Guillaume
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1158-1163
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ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell Carcinoma
Author / Creator:Katsurahara, Keita ; Shiozaki, Atsushi ; Kosuga, Toshiyuki ; Kudou, Michihiro ; Shoda, Katsutoshi ; Arita, Tomohiro ; Konishi, Hirotaka ; Komatsu, Shuhei ; Kubota, Takeshi ; Fujiwara, Hitoshi ; Okamoto, Kazuma ; Kishimoto, Mitsuo ; Konishi, Eiichi ; Marunaka, Yoshinori ; Otsuji, Eigo
Publisher:Cham: Springer International Publishing
Journal title:Annals of surgical oncology, 2020-09, Vol.27 (9), p.3218-3230
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Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
Author / Creator:Giordani, Gabriela Marchisio ; Diniz, Fabrício ; Fussiger, Helena ; Gonzalez-Salazar, Carelis ; Donis, Karina Carvalho ; Freua, Fernando ; Ortega, Roberta Paiva Magalhães ; de Freitas, Julian Letícia ; Barsottini, Orlando Graziani Povoas ; Rosemberg, Sergio ; Kok, Fernando ; Pedroso, José Luiz ; França, Marcondes Cavalcante ; Saute, Jonas Alex Morales
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-11, Vol.11 (1), p.22248-22248, Article 22248
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Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons
Author / Creator:Rehbach, Kristina ; Kesavan, Jaideep ; Hauser, Stefan ; Ritzenhofen, Swetlana ; Jungverdorben, Johannes ; Schüle, Rebecca ; Schöls, Ludger ; Peitz, Michael ; Brüstle, Oliver
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-07, Vol.9 (1), p.9615-13, Article 9615
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Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report
Author / Creator:Bhopatkar, Sydney B ; Huang, Juebin
Publisher:United States
Journal title:JIM - high impact case reports, 2025-01, Vol.13, p.23247096251323173
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Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks
Author / Creator:Rucco, Rosaria ; Liparoti, Marianna ; Jacini, Francesca ; Baselice, Fabio ; Antenora, Antonella ; De Michele, Giuseppe ; Criscuolo, Chiara ; Vettoliere, Antonio ; Mandolesi, Laura ; Sorrentino, Giuseppe ; Sorrentino, Pierpaolo
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2019-05, Vol.40 (5), p.979-984
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Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Author / Creator:Kadnikova, V. A. ; Rudenskaya, G. E. ; Stepanova, A. A. ; Sermyagina, I. G. ; Ryzhkova, O. P.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-10, Vol.9 (1), p.14412-8, Article 14412
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Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia
Author / Creator:Wali, Gautam ; Sutharsan, Ratneswary ; Fan, Yongjun ; Stewart, Romal ; Tello Velasquez, Johana ; Sue, Carolyn M ; Crane, Denis I. ; Mackay-Sim, Alan
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-05, Vol.6 (1), p.27004-27004, Article 27004
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Phosphorylation mutation impairs the promoting effect of spastin on neurite outgrowth without affecting its microtubule severing ability
Author / Creator:Zhang, Yunlong ; He, Xin ; Zou, Jianyu ; Yang, Jie ; Ma, Ao ; Tan, Minghui
Publisher:Italy: PAGEPress Publications
Journal title:European journal of histochemistry, 2023-01, Vol.67 (1)
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Novel genetic variant in hereditary spastic paraparesis
Author / Creator:Knight, Kathryn A W ; Barbour-Hastie, Catriona ; Gane, Angus ; O'Riordan, Jonathan
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ case reports, 2024-04, Vol.17 (4), p.e252396
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Showing 1 to 20 of 32 results

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

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Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation

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

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Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

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Spastin mutations impair coordination between lipid droplet dispersion and reticulum

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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

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

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A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population

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Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland

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Designing a chemical inhibitor for the AAA protein spastin using active site mutations

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Evidence of mosaicism in SPAST variant carriers in four French families

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ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell Carcinoma

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Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias

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Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons

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Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report

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Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks

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Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia

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

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

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Novel genetic variant in hereditary spastic paraparesis

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