A cysteine residue close to the C-terminus of the E subunit is essential for surface acetylcholine receptor (AChR) expression: Implications for AChR deficiency syndrome

A cysteine residue close to the C-terminus of the E subunit is essential for surface acetylcholine receptor (AChR) expression: Implications for AChR deficiency syndrome

Dades bibliogràfiques
Autors principals:	Ealing, J, Brownlow, S, Al-Murani, M, Brydson, M, Vincent, A, Vaux, D, Beeson, D
Format:	Journal article
Publicat:	2002

Ítems similars

Correlation between polymorphisms in the AChR gamma and delta subunit promoters and clinical phenotype in AChR deficiency patients
per: Bonifati, D, et al.
Publicat: (2004)

AChR phosphorylation and indirect inhibition of AChR function in seronegative MG.
per: Plested, C, et al.
Publicat: (2002)

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
per: Bonifati, D, et al.
Publicat: (2004)

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
per: Beeson, D, et al.
Publicat: (2003)

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
per: Ealing, J, et al.
Publicat: (2002)

Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell cultures.
per: Farrugia, M, et al.
Publicat: (2007)

Selective silencing of pathogenic a subunit AChR mutant in dominant disorders
per: Abdelgany, A, et al.
Publicat: (2004)

Congenital Myasthenic Syndrome and AChR Mutation
per: J Gordon Millichap
Publicat: (2000-09-01)

Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.
per: Maclennan, C, et al.
Publicat: (2008)

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
per: Faber, C, et al.
Publicat: (2009)

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
per: Croxen, R, et al.
Publicat: (2002)

Antibodies to AChRs in seronegative myasthenia gravis
per: Leite, M, et al.
Publicat: (2006)

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
per: Croxen, R, et al.
Publicat: (2001)

Impact of Key Nicotinic AChR Subunits on Post-Stroke Pneumococcal Pneumonia
per: Sandra Jagdmann, et al.
Publicat: (2020-05-01)

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
per: Webster, R, et al.
Publicat: (2004)

Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.
per: Abdelgany, A, et al.
Publicat: (2005)

Selective DNAzyme-mediated cleavage of AChR mutant transcripts by targeting the mutation site or through mismatches in the binding arm.
per: Abdelgany, A, et al.
Publicat: (2005)

Congenital Myasthenic Syndromes: End-Plate AChR Lack
per: J Gordon Millichap
Publicat: (1998-02-01)

Expression and Possible Role of Nicotinic Acetylcholine Receptor ε Subunit (AChRe) in Mouse Sperm
per: Yusei Makino, et al.
Publicat: (2021-01-01)

A Stable Cell Line Expressing Clustered AChR: A Novel Cell-Based Assay for Anti-AChR Antibody Detection in Myasthenia Gravis
per: Yu Cai, et al.
Publicat: (2021-07-01)

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
per: Cossins, J, et al.
Publicat: (2006)

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
per: Cossins, J, et al.
Publicat: (2006)

alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering
per: Dobbins G Clement, et al.
Publicat: (2008-12-01)

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.
per: Cossins, J, et al.
Publicat: (2004)

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit
per: Xin‐Ming Shen, et al.
Publicat: (2019-10-01)

Treatment-responsive pandysautonomia in an adolescent with ganglionic α3-AChR antibodies.
per: Dale, R, et al.
Publicat: (2012)

PKC and PKA regulate AChR dynamics at the neuromuscular junction of living mice.
per: Isabel Martinez-Pena y Valenzuela, et al.
Publicat: (2013-01-01)

Serological diagnosis of MG in Tianjin, China, with non-radioactive assays for AChR and MuSK antibodies
per: Yang, L, et al.
Publicat: (2009)

Consensus recommendation for the treatment of generalised Myasthenia Gravis with anti-acetylcholine receptor antibodies (gMG AChR+) in Spain
per: Elena Cortés-Vicente, et al.
Publicat: (2025-01-01)

Reconstitution of an N-AChR from Brugia malayi, an evolved change in acetylcholine receptor accessory protein requirements in filarial parasites.
per: Jennifer D Noonan, et al.
Publicat: (2022-11-01)

Nomogram for short-term outcome assessment in AChR subtype generalized myasthenia gravis
per: Rui Zhao, et al.
Publicat: (2021-06-01)

Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis
per: Lee, J, et al.
Publicat: (2016)

The clinical outcome in AChR-positive generalized myasthenia gravis: A retrospective observational study
per: Pawan T Ojha, et al.
Publicat: (2023-01-01)

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.
per: Vuslat Yilmaz, et al.
Publicat: (2015-01-01)

Direct proof of the in vivo pathogenic role of the AChR autoantibodies from myasthenia gravis patients.
per: Gregory Kordas, et al.
Publicat: (2014-01-01)

AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency
per: Jennifer Karmouch, et al.
Publicat: (2020-12-01)

The Regulation Effect of α7nAChRs and M1AChRs on Inflammation and Immunity in Sepsis
per: Song Hu, et al.
Publicat: (2021-01-01)

Characterization of an anti-fetal AChR monoclonal antibody isolated from a myasthenia gravis patient
per: Saxena, A, et al.
Publicat: (2017)

Clinical comparison of anti-MuSK- vs anti-AChR-positive and seronegative myasthenia gravis.
per: Deymeer, F, et al.
Publicat: (2007)

Performance of Serum m3AchR-Ab for Alpha-fetoprotein-negative Hepatocellular Carcinoma Diagnosis
per: Tuoheti YAKUFU·, Kainan ZHANG, Hui ZHAO, Dawuti WUBULITALIFU·, Rui ZHANG, Renyong LIN, Guodong LYU
Publicat: (2022-06-01)