Pages that link to "Q30489465"
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The following pages link to Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration (Q30489465):
Displaying 50 items.
- VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse (Q24318746) (← links)
- Dietary selenium protects against selected signs of aging and methylmercury exposure (Q24598010) (← links)
- In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. (Q24617439) (← links)
- ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder (Q24621406) (← links)
- Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance (Q26823539) (← links)
- Charcot-Marie-Tooth disease and intracellular traffic (Q26824841) (← links)
- Phosphoinositides in the mammalian endo-lysosomal network (Q27025523) (← links)
- Mutations in a P-type ATPase gene cause axonal degeneration (Q27332275) (← links)
- Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies (Q28477563) (← links)
- Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J (Q28478398) (← links)
- Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. (Q30523191) (← links)
- Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. (Q33567193) (← links)
- The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease (Q33649917) (← links)
- Mouse models of PI(3,5)P2 deficiency with impaired lysosome function. (Q33764669) (← links)
- Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease (Q33894031) (← links)
- Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. (Q34171101) (← links)
- Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. (Q34195421) (← links)
- Abnormal junctions and permeability of myelin in PMP22-deficient nerves (Q34386936) (← links)
- Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy (Q34764035) (← links)
- Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. (Q34913669) (← links)
- Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. (Q35005794) (← links)
- Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells (Q35547893) (← links)
- Metabolism and roles of phosphatidylinositol 3-phosphate in pollen development and pollen tube growth in Arabidopsis (Q36119006) (← links)
- Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP (Q36119589) (← links)
- Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P (Q36166728) (← links)
- The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation (Q36301354) (← links)
- Mutations in phosphoinositide metabolizing enzymes and human disease (Q36402106) (← links)
- Evaluating dermal myelinated nerve fibers in skin biopsy (Q36484556) (← links)
- Fig4 deficiency: a newly emerged lysosomal storage disorder? (Q36592491) (← links)
- Inherited peripheral neuropathies. (Q36822088) (← links)
- Conduction block in PMP22 deficiency. (Q36912268) (← links)
- Molecular mechanisms of inherited demyelinating neuropathies (Q36942808) (← links)
- Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. (Q37013034) (← links)
- Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease (Q37218495) (← links)
- The signaling lipid PI(3,5)P₂ stabilizes V₁-V(o) sector interactions and activates the V-ATPase (Q37696871) (← links)
- Phosphatidylinositol-3,5-bisphosphate: no longer the poor PIP2. (Q37898748) (← links)
- Demyelinating prenatal and infantile developmental neuropathies (Q37998518) (← links)
- Inositol lipid phosphatases in membrane trafficking and human disease. (Q38223317) (← links)
- Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. (Q38787166) (← links)
- PIKfyve inhibition interferes with phagosome and endosome maturation in macrophages. (Q38973926) (← links)
- PI5P and PI(3,5)P2: Minor, but Essential Phosphoinositides. (Q39182894) (← links)
- Loss of PIKfyve in platelets causes a lysosomal disease leading to inflammation and thrombosis in mice (Q42133744) (← links)
- ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases. (Q44216960) (← links)
- Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. (Q47236332) (← links)
- A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade (Q47875680) (← links)
- Charcot Marie Tooth disease type 4J with complex central nervous system features (Q50320192) (← links)
- Protective Role of the Lipid Phosphatase Fig4 in the Adult Nervous System. (Q52311182) (← links)
- Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. (Q52666734) (← links)
- Novel FIG4 mutations in Yunis–Varon syndrome (Q59697627) (← links)
- PIKfyve/Fab1 is required for efficient V-ATPase and hydrolase delivery to phagosomes, phagosomal killing, and restriction of Legionella infection (Q64261450) (← links)