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Abstract
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next‐generation sequencing methods, the discovery of novel CMS targets and phenotypes has proceeded at an accelerated rate. Here, we review the current classification of CMS and describe our findings in five of these targets identified and investigated in our laboratory in the past 5 years. Defects in LRP4 hinder synaptic development and maintenance; the defects in PREPL are predicted to diminish filling of the synaptic vesicle with acetylcholine; and defects in SNAP25, Munc13‐1, and synaptotbrevin‐1 impede synaptic vesicle exocytosis.
| Autoren: | Andrew G. Engel, Xin‐Ming Shen, Duygu Selcen | |
| Journal: | Annals of the New York Academy of Sciences | |
| Jahrgang: | 2018 | |
| Seiten: | n/a | |
| DOI: | 10.1111/nyas.13539 | |
| Erscheinungsdatum: | 21.01.2018 |
Passive transfer models of myasthenia gravis with muscle‐specific kinase antibodies
Abstract Myasthenia gravis (MG) with antibodies to muscle‐specific kinase (MuSK) is characterized by fluctuating fatigable weakness. In MuSK MG, involvement of bulbar muscles, neck, and shoulder and respiratory weakness are more prominent than in acetylcholine receptor (AChR) MG. MuSK au ... mehr
Abstract Because of the failure of many promising therapeutics identified in preclinical evaluation, funding sources have established guidelines for increased rigor in animal evaluations. The myasthenia gravis (MG) community of scientists has developed guidelines for preclinical assessme ... mehr
Functions of autophagy in the tumor microenvironment and cancer metastasis
Abstract Macro‐autophagy is an ancient and highly‐conserved self‐degradative process that plays a homeostatic role in normal cells by eliminating organelles, pathogens and protein aggregates. Autophagy, as it is routinely referred to, also allows cells to maintain metabolic sufficiency a ... mehr
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