scholarly article | Q13442814 |
P50 | author | Thomas E. Lloyd | Q55712562 |
Kathleen M Cunningham | Q85994577 | ||
P2093 | author name string | Ke Zhang | |
Rajnish Bharadwaj | |||
P2860 | cites work | Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel | Q24290404 |
The Human Phosphatidylinositol Phosphatase SAC1 Interacts with the Coatomer I Complex | Q24296999 | ||
Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex | Q24307982 | ||
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse | Q24318746 | ||
The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans | Q24548664 | ||
ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder | Q24621406 | ||
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease | Q24633417 | ||
Assembly of a Fab1 phosphoinositide kinase signaling complex requires the Fig4 phosphoinositide phosphatase | Q24643186 | ||
Fab1 phosphatidylinositol 3-phosphate 5-kinase controls trafficking but not silencing of endocytosed receptors | Q24671705 | ||
The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover | Q24683845 | ||
Phosphoinositides in cell regulation and membrane dynamics | Q27861051 | ||
Vacuole Size Control: Regulation of PtdIns(3,5)P2Levels by the Vacuole-associated Vac14-Fig4 Complex, a PtdIns(3,5)P2-specific Phosphatase | Q27933521 | ||
Mammalian cell morphology and endocytic membrane homeostasis require enzymatically active phosphoinositide 5-kinase PIKfyve | Q28210351 | ||
Recent advances in retromer biology | Q28308202 | ||
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J | Q28478398 | ||
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J | Q28511673 | ||
PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome | Q29543488 | ||
Identification of functional elements and regulatory circuits by Drosophila modENCODE | Q29617551 | ||
Cbl-associated protein regulates assembly and function of two tension-sensing structures in Drosophila | Q30451385 | ||
Mutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus | Q30486228 | ||
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. | Q30523191 | ||
Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene | Q30696655 | ||
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy | Q33904567 | ||
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. | Q34171101 | ||
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. | Q34195421 | ||
Molecular reactions of protein phosphatases--insights from structure and chemistry | Q34465999 | ||
Minos as a genetic and genomic tool in Drosophila melanogaster | Q34589640 | ||
A synthetic maternal-effect selfish genetic element drives population replacement in Drosophila | Q34613883 | ||
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy | Q34764035 | ||
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. | Q34913669 | ||
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. | Q35005794 | ||
VPS35 mutations in Parkinson disease | Q35103751 | ||
Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells | Q35547893 | ||
Endogenously tagged rab proteins: a resource to study membrane trafficking in Drosophila | Q35606386 | ||
The Fab1 phosphatidylinositol kinase pathway in the regulation of vacuole morphology. | Q36173537 | ||
Fig4 deficiency: a newly emerged lysosomal storage disorder? | Q36592491 | ||
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase | Q36817367 | ||
Murine Fig4 is dispensable for muscle development but required for muscle function | Q37351972 | ||
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria | Q37657008 | ||
Membrane dynamics and fusion at late endosomes and vacuoles--Rab regulation, multisubunit tethering complexes and SNAREs | Q37891288 | ||
Phosphatidylinositol-3,5-bisphosphate: no longer the poor PIP2. | Q37898748 | ||
PIKfyve regulation of endosome-linked pathways | Q41852844 | ||
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. | Q42254064 | ||
Drosophila larval NMJ dissection | Q42584951 | ||
Fig4 expression in the rodent nervous system and its potential role in preventing abnormal lysosomal accumulation. | Q51837174 | ||
Genetic manipulation and monitoring of autophagy in Drosophila. | Q51941406 | ||
Electron Microscopy of Drosophila Larval Neuromuscular Junctions | Q52707871 | ||
Novel FIG4 mutations in Yunis–Varon syndrome | Q59697627 | ||
Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome | Q87416926 | ||
P433 | issue | 4 | |
P304 | page(s) | 681-692 | |
P577 | publication date | 2015-12-11 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | FIG4 regulates lysosome membrane homeostasis independent of phosphatase function | |
P478 | volume | 25 |
Q52329270 | Autophagy as a common pathway in amyotrophic lateral sclerosis. |
Q52315057 | Control of vacuole membrane homeostasis by a resident PI-3,5-kinase inhibitor. |
Q38885442 | Defective phosphoinositide metabolism in autism |
Q91235415 | Draft genome assembly of Tenualosa ilisha, Hilsa shad, provides resource for osmoregulation studies |
Q91194191 | Identification of CR43467 encoding a long non-coding RNA as a novel genetic interactant with dFIG4, a CMT-causing gene |
Q54111267 | Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown. |
Q90095321 | Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan |
Q36957125 | PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms |
Q38600541 | PIKfyve activity regulates reformation of terminal storage lysosomes from endolysosomes |
Q97531610 | The role of lipids in autophagy and its implication in neurodegeneration |
Q89543124 | Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes |
Q47723480 | Yunis-Varón syndrome caused by biallelic VAC14 mutations |
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