Cargando…

Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations

BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is the second-most common cause of CMS. However, data on pharmacological treatments a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shao, Shuai, Shi, Guanzhong, Bi, Fang-Fang, Huang, Kun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bentham Science Publishers 2023
Materias:	Medicine, Neurology, Pharmacology, Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472815/ https://www.ncbi.nlm.nih.gov/pubmed/36703579 http://dx.doi.org/10.2174/1570159X21666230126145652

Ejemplares similares

Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect
por: Zhang, Qiting, et al.
Publicado: (2023)

A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome
por: Rinz, Caitlin J., et al.
Publicado: (2014)

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation
por: Tsai, Kate L., et al.
Publicado: (2019)

A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome
por: Abitbol, Marie, et al.
Publicado: (2015)

COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature()
por: Yin, Yatao, et al.
Publicado: (2023)

A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue
por: Horibe, Takuya, et al.
Publicado: (2023)

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers
por: Mohammadi, Mohammad Farid, et al.
Publicado: (2023)

COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review
por: Al-Muhaizea, Mohammad A., et al.
Publicado: (2017)

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene
por: Luo, Xiaona, et al.
Publicado: (2021)

Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports
por: Huang, Kun, et al.
Publicado: (2021)

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
por: McMacken, Grace M, et al.
Publicado: (2019)

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome
por: Rahman, Mohammad Alinoor, et al.
Publicado: (2015)

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
por: Barbeau, Susie, et al.
Publicado: (2023)

Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome
por: Wang, Aiping, et al.
Publicado: (2020)

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
por: El Kadiri, Youssef, et al.
Publicado: (2022)

Can Scoliosis Help the Early Diagnosis of Congenital Myasthenic Syndrome?
por: Kaya, Oğuz, et al.
Publicado: (2023)

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
por: Belaya, Katsiaryna, et al.
Publicado: (2015)

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
por: Liu, Zhimei, et al.
Publicado: (2019)

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
por: Laforgia, Nicola, et al.
Publicado: (2020)

Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature
por: An, Ran, et al.
Publicado: (2022)

Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation
por: Zhang, Yixia, et al.
Publicado: (2020)

Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome
por: Pinto, Marcus V., et al.
Publicado: (2019)

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms
por: Nicolau, Stefan, et al.
Publicado: (2019)

A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome
por: Xing, Guanglin, et al.
Publicado: (2019)

Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome
por: Shen, Xin‐Ming, et al.
Publicado: (2017)

Congenital myasthenic syndromes
por: Finsterer, Josef
Publicado: (2019)

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
por: Xi, Jianying, et al.
Publicado: (2017)

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome
por: Salpietro, Vincenzo, et al.
Publicado: (2017)

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
por: Szelinger, Szabolcs, et al.
Publicado: (2020)

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
por: Jacquier, Arnaud, et al.
Publicado: (2022)

Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
por: Huang, Kun, et al.
Publicado: (2022)

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
por: Gómez-García de la Banda, Marta, et al.
Publicado: (2022)

Recent Advances and Therapeutic Options in Lambert-Eaton Myasthenic Syndrome
por: Anwar, Arsalan, et al.
Publicado: (2019)

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
por: Maselli, R A, et al.
Publicado: (2009)

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
por: Bauché, Stéphanie, et al.
Publicado: (2020)

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
por: Yang, Kunfang, et al.
Publicado: (2018)

Pembrolizumab-Induced Ocular Myasthenic Crisis
por: Lorenzo, Christian J, et al.
Publicado: (2020)

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
por: Maselli, Ricardo A., et al.
Publicado: (2010)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
por: Cossins, Judith, et al.
Publicado: (2013)

Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome
por: Wang, Hai-Long, et al.
Publicado: (2000)

Cannot write session to /tmp/vufind_sessions/sess_8adss3lu1g6nqucrqdljsat55q