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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
There continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes, so it is important to update guidelines for monitoring autophagic activity in different organisms.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
The results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between Bin1 and DNM2 is necessary for normal muscle function and positioning of nuclei.
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
The presence of frameshift or missense mutations in seven patients proved that one of these genes is indeed implicated in MTM1, a new family of putative tyrosine phosphatases in man.
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Control of autophagy initiation by phosphoinositide 3‐phosphatase jumpy
This work reports for the first time that initiation of autophagy is controlled not only by the forward reaction of generating PI3P through a lipid kinase but that its levels are controlled by a specificPI3P phosphatase, which when defective can lead to human disease.
Centronuclear (myotubular) myopathy
- H. Jungbluth, C. Wallgren‐Pettersson, J. Laporte
- Medicine, BiologyOrphanet journal of rare diseases
- 25 September 2008
Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis.
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset…
It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1.
Mutations in dynamin 2 cause dominant centronuclear myopathy
In 11 families affected by centronuclear myopathy, recurrent and de novo missense mutations in the gene dynamin 2 (DNM2), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly and centrosome cohesion, were identified.
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
- A. Buj‐Bello, V. Laugel, J. Mandel
- BiologyProceedings of the National Academy of Sciences…
- 21 October 2002
It is demonstrated, through a conditional gene-targeting approach, that skeletal muscle is the primary target of murine XLMTM pathology, and it is shown that muscle differentiation in knockout mice occurs normally, contrary to expectations.
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
An analysis of the myotubularin family in sequenced genomes finds that phosphoinositides are signaling molecules that are notably involved in vacuolar transport and membrane trafficking and are proposed to be implicated in these cellular mechanisms.