| PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor. | PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor.
Xiang Q, Wang Z, Mu G, Xie Q, Liu Z, Zhou S, Zhang H, Wang Z, Hu K, Song H, Yuan D, Xia Q, Huang Y, Cui Y. | 12/24/2022 |
| Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID. | Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID.
Qiu S, Lavallée-Adam M, Côté M. | 03/5/2022 |
| Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients. | Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Lafontaine M, Lia AS, Bourthoumieu S, Beauvais-Dzugan H, Derouault P, Arné-Bes MC, Sarret C, Laffargue F, Magot A, Sturtz F, Magy L, Magdelaine C., Free PMC Article | 11/6/2021 |
| Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. | Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Wright GC, Brown R, Grayton H, Livingston JH, Park SM, Parker APJ, Patel A, Simonic I, Thomas AG, Vadlamani G, Horvath R, Harijan PD. | 07/10/2021 |
| Severe Consequences SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J. | Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
Shisheva A, Sbrissa D, Hu B, Li J. | 04/4/2020 |
| we identified four families with novel FIG4 genotypes and CNS white matter disease varying from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. Impaired FIG4 function was revealed by the presence of large vacuoles in cultured patient fibroblasts | Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S, Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH., Free PMC Article | 03/14/2020 |
| These findings strongly indicate a critical dependence of FIG4 for the normal functions of peripheral nerve myelin. | Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
Hu B, McCollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley B, Burnette B, Siskind C, Day J, Yawn R, Feely S, Li Y, Yan Q, Shy M, Li J., Free PMC Article | 08/3/2019 |
| 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 |
| A rare heterozygous FIG4 frameshift variant was identified in a German family. Sequence analysis of FIG4 in 200 ALS cases revealed five rare heterozygous FIG4 missense variants predicted to be deleterious. FIG4 is an ALS risk gene in a central European cohort. | FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.
Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, Raab P, Preller M, Petri S, Weber RG., Free PMC Article | 08/12/2017 |
| These results suggest that FIG4 binds to hepatitis C virus and modulates particle formation in a cholesteryl ester-related manner. | FIG4 is a hepatitis C virus particle-bound protein implicated in virion morphogenesis and infectivity with cholesteryl ester modulation potential.
Cottarel J, Plissonnier ML, Kullolli M, Pitteri S, Clément S, Millarte V, Si-Ahmed SN, Farhan H, Zoulim F, Parent R. | 06/4/2016 |
| data identify a novel role of the ArPIKfyve-Sac3 complex in the mechanisms controlling aggregate formation of Sph1 and suggest that Sac3 protein deficiency or overproduction may facilitate aggregation of aggregation-prone proteins | The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.
Ikonomov OC, Sbrissa D, Compton LM, Kumar R, Tisdale EJ, Chen X, Shisheva A., Free PMC Article | 04/2/2016 |
| The findings suggest that FIG4 may have a common role in the formation or degradation of neuronal cytoplasmic and nuclear inclusions in several neurodegenerative diseases. | ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases.
Kon T, Mori F, Tanji K, Miki Y, Toyoshima Y, Yoshida M, Sasaki H, Kakita A, Takahashi H, Wakabayashi K. | 09/20/2014 |
| FIG4 mutations were identified in autosomal-dominant Amyotrophic lateral sclerosis. | Amyotrophic lateral sclerosis: an update on recent genetic insights.
Iguchi Y, Katsuno M, Ikenaka K, Ishigaki S, Sobue G. | 06/21/2014 |
| Phenotypes associated with FIG4 mutations include cortical malformation associated with seizures and psychiatric manifestations, in addition to the Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. | Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E., Free PMC Article | 05/31/2014 |
| Identified novel biallelic FIG4 mutations. | Novel FIG4 mutations in Yunis-Varon syndrome.
Nakajima J, Okamoto N, Shiraishi J, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N. | 05/24/2014 |
| Genetic variations in the FIG4 gene were not found to cause ALS in Italian patients. | The FIG4 gene does not play a major role in causing ALS in Italian patients.
Verdiani S, Origone P, Geroldi A, Bandettini Di Poggio M, Mantero V, Bellone E, Mancardi G, Caponnetto C, Mandich P. | 12/28/2013 |
| results uncover an unexpected role for Sac3 phosphatase in triple-negative breast cancer cell proliferation | The PIKfyve-ArPIKfyve-Sac3 triad in human breast cancer: Functional link between elevated Sac3 phosphatase and enhanced proliferation of triple negative cell lines.
Ikonomov OC, Filios C, Sbrissa D, Chen X, Shisheva A., Free PMC Article | 12/14/2013 |
| Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. | Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH., Free PMC Article | 07/6/2013 |
| This study demonistrated that CMT4J is a clinically distinct form of Charcot-Marie-Tooth disease with mutations in the PI(3,5)P phosphatase FIG4. | Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH., Free PMC Article | 08/27/2011 |
| 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 |
| PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis | PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis.
Ikonomov OC, Sbrissa D, Fenner H, Shisheva A., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesThe variations of BOP gene in hypertrophic cardiomyopathy.
Abaci N, Güleç C, Bayrak F, Kömürcü Bayrak E, Kahveci G, Erginel Unaltuna N. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.
Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C. | 04/1/2009 |
| Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases | Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH., Free PMC Article | 01/21/2010 |
| The authors data indicate that the PAS complex is organized to provide optimal PIKfyve functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions. | ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality.
Sbrissa D, Ikonomov OC, Fenner H, Shisheva A., Free PMC Article | 01/21/2010 |
| We identified pathogenic mutations of human FIG4 (KIAA0274) on chromosome 6q21 in four unrelated patients with hereditary motor and sensory neuropathy. | 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 |