Cargando…

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

Congenital Myasthenic Syndromes (CMSs) are rare inherited diseases of the neuromuscular junction characterized by muscle weakness. CMSs with acetylcholinesterase deficiency are due to pathogenic variants in COLQ, a collagen that anchors the enzyme at the synapse. The two COLQ N-terminal domains have...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barbeau, Susie, Semprez, Fannie, Dobbertin, Alexandre, Merriadec, Laurine, Roussange, Florine, Eymard, Bruno, Sternberg, Damien, Fournier, Emmanuel, Karasoy, Hanice, Martinat, Cécile, Legay, Claire
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671321/ https://www.ncbi.nlm.nih.gov/pubmed/38003406 http://dx.doi.org/10.3390/ijms242216217

Ejemplares similares

The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase–LRP4 receptor complex by agrin at the neuromuscular junction
por: Uyen Dao, Thi Minh, et al.
Publicado: (2023)

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

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

AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency
por: Karmouch, Jennifer, et al.
Publicado: (2020)

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

Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
por: Shao, Shuai, 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 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)

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report
por: Kediha, Mohamed Islam, et al.
Publicado: (2022)

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

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

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

The Association of Tetrameric Acetylcholinesterase with ColQ Tail: A Block Normal Mode Analysis
por: Zhang, Deqiang, et al.
Publicado: (2005)

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

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)

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)

Optogenetically controlled human functional motor endplate for testing botulinum neurotoxins
por: de Lamotte, Juliette Duchesne, et al.
Publicado: (2021)

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

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

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2019)

COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy
por: Gandolfi, Barbara, et al.
Publicado: (2015)

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
por: Masingue, Marion, et al.
Publicado: (2023)

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
por: Nicole, Sophie, et al.
Publicado: (2017)

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
por: Thompson, Rachel, et al.
Publicado: (2018)

Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia
por: Wang, Wei, et al.
Publicado: (2016)

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis
por: Sigurdsson, Snaevar, et al.
Publicado: (2017)

Myasthenic Crisis In Pregnancy
por: French, David M., et al.
Publicado: (2017)

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

SOP myasthenic crisis
por: Stetefeld, Henning, et al.
Publicado: (2019)

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

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
por: Kramer, J.J., et al.
Publicado: (2023)

Pulmonary Edema in Myasthenic Crisis
por: Anand, Uttara Swati, et al.
Publicado: (2013)

Breaking Down Myasthenic Crisis
por: Wijdicks, Eelco F. M.
Publicado: (2020)

Myasthenic crisis in COVID-19
por: Delly, Fadi, et al.
Publicado: (2020)

Overexpression of Nucleolin and Associated Genes in Prostate Cancer
por: Firlej, Virginie, et al.
Publicado: (2022)

The Spectrum of Autonomic Dysfunction in Myasthenic Crisis
por: Benjamin, Rohit Ninan, et al.
Publicado: (2018)

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

Amifampridine for Lambert-Eaton myasthenic syndrome
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_3vfr37l4u8pg8vuu0g04roeqgg