Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia

Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia

Congenital myasthenic syndromes are a group of inherited disorders characterized by defective neuromuscular transmission and fatigable muscle weakness. Causative mutations have been identified in over 30 genes, including DOK7, a gene encoding a post-synaptic protein crucial in the formation and stab...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Cossins, J, Kozma, I, Canzonetta, C, Hawkins, A, Beeson, D, Sepulveda, P, Dong, YY
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	Oxford University Press 2025

Eitemau Tebyg

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
gan: Hamuro, J, et al.
Cyhoeddwyd: (2008)

Congenital myasthenia: contrasting rapsyn and Dok-7 phenotypes
gan: Palace, J
Cyhoeddwyd: (2010)

EPHEDRINE TREATMENT RESULTS IN PROFOUND FUNCTIONAL IMPROVEMENTS IN DOK-7 CONGENITAL MYASTHENIA
gan: Lashley, D, et al.
Cyhoeddwyd: (2009)

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
gan: Yu-Ting Huang, et al.
Cyhoeddwyd: (2023-09-01)

DOK7 congenital myasthenic syndrome.
gan: Palace, J
Cyhoeddwyd: (2012)

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
gan: Cossins, J, et al.
Cyhoeddwyd: (2012)

Clinical features of the DOK7 neuromuscular junction synaptopathy.
gan: Palace, J, et al.
Cyhoeddwyd: (2007)

Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
gan: Cossins, J, et al.
Cyhoeddwyd: (2010)

Silencing of Dok-7 in adult rat muscle increases susceptibility to passive transfer myasthenia gravis
gan: Gomez, A, et al.
Cyhoeddwyd: (2016)

DOK7 Mutations in Congenital Myasthenic Syndromes
gan: J Gordon Millichap
Cyhoeddwyd: (2007-06-01)

Dok-7/MuSK signaling and a congenital myasthenic syndrome.
gan: Yamanashi, Y, et al.
Cyhoeddwyd: (2008)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
gan: Lashley, D, et al.
Cyhoeddwyd: (2010)

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
gan: Müller, J, et al.
Cyhoeddwyd: (2007)

Dok-7 mutations underlie a neuromuscular junction synaptopathy.
gan: Beeson, D, et al.
Cyhoeddwyd: (2006)

The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment
gan: Beeson, D, et al.
Cyhoeddwyd: (2012)

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
gan: Burke, G, et al.
Cyhoeddwyd: (2013)

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
gan: Jephson, C, et al.
Cyhoeddwyd: (2010)

The effect of dok-7 on acetylcholine receptor clustering in C2C12 cells
gan: Spearman, H, et al.
Cyhoeddwyd: (2008)

DOK7 congenital myasthenic syndrome: case series and review of literature
gan: Bentolhoda Ziaadini, et al.
Cyhoeddwyd: (2024-06-01)

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
gan: Klein, A, et al.
Cyhoeddwyd: (2013)

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children
gan: Klein, A, et al.
Cyhoeddwyd: (2013)

Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
gan: Vogt, J, et al.
Cyhoeddwyd: (2009)

Effects of beta-2 adrenergic receptor agonists in DOK7 congenital myasthenic syndrome
gan: Clausen, L
Cyhoeddwyd: (2015)

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
gan: Jorge A. Bevilacqua, et al.
Cyhoeddwyd: (2017-09-01)

DokNet’s World
gan: William Billones
Cyhoeddwyd: (2024-11-01)

Dok valovi nadiru
gan: Claudie Gallay, et al.
Cyhoeddwyd: (2015-06-01)

DokNet’s World
gan: William Billones
Cyhoeddwyd: (2024-05-01)

DokNet’s World
gan: William Billones
Cyhoeddwyd: (2023-11-01)

DokNet’s World
gan: William Billones
Cyhoeddwyd: (2023-06-01)

Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
gan: Arimura, S, et al.
Cyhoeddwyd: (2014)

Dok-2 and Dok-1 adaptor proteins, two novel negative regulators of TCR signaling
gan: Dong, S, et al.
Cyhoeddwyd: (2007)

Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
gan: Beeson, D, et al.
Cyhoeddwyd: (2006)

Słownik terminologiczny nauk moralnych: (dok.)
gan: Stanisław Witek
Cyhoeddwyd: (1976-03-01)

Studi Implementasi RCM untuk Peningkatan Produktivitas Dok Apung (Studi Kasus: PT.Dok dan Perkapalan Surabaya)
gan: Nurlaily Mufarikhah
Cyhoeddwyd: (2017-01-01)

Dök- as an auxiliary verb in the Turkey Turkish dialects
gan: MEHMETCAN GÖKBAYIR
Cyhoeddwyd: (2022-12-01)

DOK1 and DOK2 regulate CD8 T cell signaling and memory formation without affecting tumor cell killing
gan: Vladimir Laletin, et al.
Cyhoeddwyd: (2024-07-01)

DOK7 gene therapy enhances motor activity and life span in ALS model mice
gan: Sadanori Miyoshi, et al.
Cyhoeddwyd: (2017-05-01)

DOK7 Gene Therapy Enhances Neuromuscular Junction Innervation and Motor Function in Aged Mice
gan: Ryo Ueta, et al.
Cyhoeddwyd: (2020-08-01)

A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members
gan: Mohammed S. Alsallum, et al.
Cyhoeddwyd: (2021-05-01)

Multiscale simulations suggest a mechanism for the association of Dok7’s PH domain with PIP-containing membranes
gan: Buyan, A, et al.
Cyhoeddwyd: (2016)