Cargando…

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders that are characterized by progressive spasticity and weakness of the lower limbs. Mutations in the spastin gene (SPAST) are the most common causes of HSP, accounting for 40...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kim, Tae-Hyoung, Lee, Jae-Hyeok, Park, Young-Eun, Shin, Jin-Hong, Nam, Tai-Seung, Kim, Hyang-Sook, Jang, Ho-Jung, Semenov, Artem, Kim, Sang Jin, Kim, Dae-Seong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2014
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101104/ https://www.ncbi.nlm.nih.gov/pubmed/25045380 http://dx.doi.org/10.3988/jcn.2014.10.3.257

Ejemplares similares

Erratum: Mutation Analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
por: Kim, Tae-Hyoung, et al.
Publicado: (2014)

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
por: Álvarez, Victoria, et al.
Publicado: (2010)

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
por: Kadnikova, V. A., et al.
Publicado: (2019)

Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia
por: Mohan, Neha, et al.
Publicado: (2021)

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families
por: Ma, Xinran, et al.
Publicado: (2020)

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia
por: Park, Hyung Jun, et al.
Publicado: (2018)

Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31
por: Fisher, K. M., et al.
Publicado: (2013)

De novo REEP2 missense mutation in pure hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017)

Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes
por: Napoli, Barbara, et al.
Publicado: (2019)

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs
por: Wali, Gautam, et al.
Publicado: (2023)

Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)
por: Schlang, Katharina J, et al.
Publicado: (2008)

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province
por: Shen, Tao, et al.
Publicado: (2022)

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia
por: Yu, Weiwei, et al.
Publicado: (2020)

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
por: Abrahamsen, Greger, et al.
Publicado: (2013)

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration
por: Yang, Ji Won, et al.
Publicado: (2013)

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
por: Abrahamsen, Greger, et al.
Publicado: (2015)

Transcriptional and Post-Transcriptional Regulation of SPAST, the Gene Most Frequently Mutated in Hereditary Spastic Paraplegia
por: Henson, Brian J., et al.
Publicado: (2012)

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
por: Morikawa, Takuya, et al.
Publicado: (2021)

Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review
por: Richard, Sébastien, et al.
Publicado: (2017)

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
por: Chelban, Viorica, et al.
Publicado: (2017)

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells
por: Wali, Gautam, et al.
Publicado: (2020)

Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin
por: Solowska, Joanna M., et al.
Publicado: (2017)

Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia
por: Wang, Bingjie, et al.
Publicado: (2020)

Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia
por: Yang, Jiwon, et al.
Publicado: (2019)

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks
por: Rucco, Rosaria, et al.
Publicado: (2019)

Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a Novel SPAST Mutation
por: Lin, Jian-zhong, et al.
Publicado: (2020)

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia
por: Robbins, Nathaniel M., et al.
Publicado: (2020)

A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism
por: Nan, Haitian, et al.
Publicado: (2022)

Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons
por: Wali, Gautam, et al.
Publicado: (2020)

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia
por: Klimkowicz-Mrowiec, Aleksandra, et al.
Publicado: (2019)

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia
por: Wali, Gautam, et al.
Publicado: (2016)

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report
por: Wang, Xing-Chen, et al.
Publicado: (2023)

Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
por: Xiao, Xue-Wen, et al.
Publicado: (2019)

Clinical analysis in patients with SPG11 hereditary spastic paraplegia
por: Kang, You-Ri, et al.
Publicado: (2023)

Hereditary Spastic Paraplegia: An Update
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A
por: Mustafa, Mujahed I., et al.
Publicado: (2020)

Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia☆
por: Gao, Yu, et al.
Publicado: (2012)

Hereditary Spastic Paraplegia in Koreans: Clinical Characteristics and Factors Influencing the Disease Severity
por: Do, Jong Geol, et al.
Publicado: (2022)

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred
por: Racis, Loretta, et al.
Publicado: (2014)

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene
por: Xu, Li, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_3mb261gpfara9l30mive3cgbdk