Myotubularin MTM1 Involved in Centronuclear Myopathy and its Roles in Human and Yeast Cells
Mutations in the MTM1 gene, encoding the phosphoinositide phosphatase myotubularin, are responsible for the X-linked centronuclear myopathy (XLCNM) or X-linked myotubular myopathy (XLMTM). The MTM1 gene was first identified in 1996 and its function as a PtdIns3P and PtdIns(,5)P2 phosphatase was discovered in 2000. In recent years, very important progress has been made to set up good models to study MTM1 and the XLCNM disease such as knockout or knockin mice, the Labrador Retriever dog, the zebrafish and the yeast Saccharomyces cerevisiae. These helped to better understand the cellular function of MTM1 and of its four conserved domains: PH-GRAM (Pleckstrin Homology-Glucosyltransferase, Rab-like GTPase Activator and Myotubularin), RID (Rac1-Induced recruitment Domain), PTP/DSP (Protein Tyrosine Phosphatase/Dual-Specificity Phosphatase) and SID (SET-protein Interaction Domain). This review presents the cellular function of human myotubularin MTM1 and its yeast homolog yeast protein Ymr1, and the role of MTM1 in the centronuclear myopathy (CNM) disease.
Code (0)
등록된 구현이 없습니다.
Tasks
SpecificitySimilar Papers 제목 키워드 기반
Methylglyoxal induces cardiac dysfunction through mechanisms involving altered intracellular calcium handling in the rat heart
Methylglyoxal (MGO) is an endogenous, highly reactive dicarbonyl metabolite generated under hyperglycaemic conditions. MGO plays a role in developing pathophysiological conditions, including diabetic cardiomyopathy. Howe…
Artificial Intelligence and the Dual Paradoxes: Examining the Interplay of Efficiency, Resource Consumption, and Labor Dynamics
Artificial Intelligence's (AI) rapid development and growth not only transformed industries but also fired up important debates about its impacts on employment, resource allocation, and the ethics involved in decision-ma…
Decision MakingEthicsSelf-attention based BiLSTM-CNN classifier for the prediction of ischemic and non-ischemic cardiomyopathy
Heart Failure is a major component of healthcare expenditure and a leading cause of mortality worldwide. Despite higher inter-rater variability, endomyocardial biopsy (EMB) is still regarded as the standard technique, us…
Learning to Listen: Critically Considering the Role of AI in Human Storytelling and Character Creation
In this opinion piece, we argue that there is a need for alternative design directions to complement existing AI efforts in narrative and character generation and algorithm development. To make our argument, we a) outlin…
Cardiomyopathy Diagnosis Model from Endomyocardial Biopsy Specimens: Appropriate Feature Space and Class Boundary in Small Sample Size Data
As the number of patients with heart failure increases, machine learning (ML) has garnered attention in cardiomyopathy diagnosis, driven by the shortage of pathologists. However, endomyocardial biopsy specimens are often…
DiagnosticDimensionality Reductionfeature selection