| Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c. | Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
Cao X, Lenk GM, Meisler MH., Free PMC Article | 08/10/2023 |
| The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants. | The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
Cao X, Lenk GM, Mikusevic V, Mindell JA, Meisler MH., Free PMC Article | 07/12/2023 |
| AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model. | AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
Presa M, Bailey RM, Davis C, Murphy T, Cook J, Walls R, Wilpan H, Bogdanik L, Lenk GM, Burgess RW, Gray SJ, Lutz C., Free PMC Article | 10/9/2021 |
| in the adult PNS Fig4 is required to protect myelinated axons from Wallerian degeneration. In the adult CNS, Fig4 is dispensable for fiber stability and nerve conduction, but is required for the timely repair of damaged white matter. The greater vulnerability of the PNS to Fig4 deficiency in the mouse is consistent with clinical observations in patients with Charcot-Marie-Tooth disease. | Protective role of the lipid phosphatase Fig4 in the adult nervous system.
Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, Meisler MH, Giger RJ., Free PMC Article | 03/16/2019 |
| Neuronal expression of Fig4(C486S) transgene prevents neonatal neurodegeneration & juvenile lethality seen in Fig4-/- mice. However, later in life Fig4(C486S) causes significant abnormalities: hydrocephalus, defective myelination &reduced lifespan | Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.
Lenk GM, Frei CM, Miller AC, Wallen RC, Mironova YA, Giger RJ, Meisler MH., Free PMC Article | 10/22/2016 |
| Inactivation of Fig4 in motor neurons display neuronal and axonal degeneration. | Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
Vaccari I, Carbone A, Previtali SC, Mironova YA, Alberizzi V, Noseda R, Rivellini C, Bianchi F, Del Carro U, D'Antonio M, Lenk GM, Wrabetz L, Giger RJ, Meisler MH, Bolino A., Free PMC Article | 09/26/2015 |
| Fig4 expression in the neurons is both necessary and sufficient to prevent spongiform neurodegeneration | Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH., Free PMC Article | 02/9/2013 |
| Haploinsufficiency of Fig4 does not impose risks in rodents to develop neuronal degeneration in either naive or traumatic conditions. | Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice.
Yan Q, Guo J, Zhang X, Bai Y, Wang L, Li J. | 09/8/2012 |
| Here we provide strong evidence that Mtmr2 and Fig4 functionally interact in both Schwann cells and neurons, and we reveal for the first time a role of Mtmr2 in neurons in vivo | Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A., Free PMC Article | 02/25/2012 |
| Fig4 may be required to prevent neurons and glia from excessive lysosomal accumulation after injury and in neurodegeneration. | Fig4 expression in the rodent nervous system and its potential role in preventing abnormal lysosomal accumulation.
Guo J, Ma YH, Yan Q, Wang L, Zeng YS, Wu JL, Li J. | 02/18/2012 |
| Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J | Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH., Free PMC Article | 10/1/2011 |
| Results suggest that Fig4 deficiency affects motor neurons differently from sensory neurons by mechanisms involving excessive retention of molecules in lysosomes or disruption of vacuolated organelles. | Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.
Katona I, Zhang X, Bai Y, Shy ME, Guo J, Yan Q, Hatfield J, Kupsky WJ, Li J. | 09/17/2011 |
| a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J. | ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.
Ikonomov OC, Sbrissa D, Fligger J, Delvecchio K, Shisheva A., Free PMC Article | 09/20/2010 |
| Sac3 as an insulin-sensitive phosphatase whose down-regulation increases insulin responsiveness, thus implicating Sac3 as a novel drug target in insulin resistance. | Sac3 is an insulin-regulated phosphatidylinositol 3,5-bisphosphate phosphatase: gain in insulin responsiveness through Sac3 down-regulation in adipocytes.
Ikonomov OC, Sbrissa D, Ijuin T, Takenawa T, Shisheva A., Free PMC Article | 01/21/2010 |
| The pale tremor mutant provides the first evidence regarding the functional role of mammalian Fig4 | Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH., Free PMC Article | 01/21/2010 |