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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
TLDR
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. Expand
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
TLDR
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. Expand
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
TLDR
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. Expand
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
TLDR
It is concluded that the tissue-specific impact ofSTIM1 loss or constitutive activation is different and that a tight regulation of STIM1-dependent SOCE is fundamental for normal skeletal-muscle structure and function. Expand
Control of autophagy initiation by phosphoinositide 3‐phosphatase jumpy
TLDR
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. Expand
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
TLDR
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. Expand
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
TLDR
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. Expand
Centronuclear (myotubular) myopathy
TLDR
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. Expand
Mutations in dynamin 2 cause dominant centronuclear myopathy
TLDR
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. Expand
The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans.
TLDR
The roles of phosphatidylinositol phosphate kinase 3 (PPK-3), the orthologue of PIKfyve/Fab1p, in a multicellular organism, Caenorhabditis elegans, strongly suggests that the main function of PPk-3 is to mediate membrane retrieval from matured lysosomes through regulation of PtdIns(3,5)P2. Expand
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