Autophagy: basic principles and relevance to disease
M Kundu, CB Thompson - Annu. Rev. Pathol. Mech. Dis., 2008 - annualreviews.org
Autophagy is a process by which cytoplasmic components are sequestered in double
membrane vesicles and degraded upon fusion with lysosomal compartments. In yeast …
membrane vesicles and degraded upon fusion with lysosomal compartments. In yeast …
Synthesis and function of membrane phosphoinositides in budding yeast, Saccharomyces cerevisiae
T Strahl, J Thorner - Biochimica et Biophysica Acta (BBA)-Molecular and …, 2007 - Elsevier
It is now well appreciated that derivatives of phosphatidylinositol (PtdIns) are key regulators
of many cellular processes in eukaryotes. Of particular interest are phosphoinositides (mono …
of many cellular processes in eukaryotes. Of particular interest are phosphoinositides (mono …
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
AS Nicot, A Toussaint, V Tosch, C Kretz… - Nature …, 2007 - nature.com
Centronuclear myopathies are characterized by muscle weakness and abnormal
centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal …
centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal …
Control of autophagy initiation by phosphoinositide 3‐phosphatase Jumpy
I Vergne, E Roberts, RA Elmaoued, V Tosch… - The EMBO …, 2009 - embopress.org
The majority of studies on autophagy, a cytoplasmic homeostatis pathway of broad
biological and medical significance, have been hitherto focused on the phosphatidylinositol …
biological and medical significance, have been hitherto focused on the phosphatidylinositol …
Congenital myopathies: clinical phenotypes and new diagnostic tools
D Cassandrini, R Trovato, A Rubegni, S Lenzi… - Italian journal of …, 2017 - Springer
Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased
numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most …
numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most …
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an
unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a …
unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a …
Consensus statement on standard of care for congenital myopathies
CH Wang, JJ Dowling, K North… - Journal of child …, 2012 - journals.sagepub.com
Recent progress in scientific research has facilitated accurate genetic and
neuropathological diagnosis of congenital myopathies. However, given their relatively low …
neuropathological diagnosis of congenital myopathies. However, given their relatively low …
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
L Al-Qusairi, N Weiss, A Toussaint… - Proceedings of the …, 2009 - National Acad Sciences
Skeletal muscle contraction is triggered by the excitation-contraction (EC) coupling
machinery residing at the triad, a membrane structure formed by the juxtaposition of T …
machinery residing at the triad, a membrane structure formed by the juxtaposition of T …
[HTML][HTML] X-linked myotubular myopathy
MW Lawlor, JJ Dowling - Neuromuscular Disorders, 2021 - Elsevier
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by
mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal …
mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal …