Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
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Robert H. Brown | J. Landers | M. Meisler | L. Weisman | P. Sapp | Sarah K. Bergren | C. Y. Chow | D. Figlewicz | G. Lenk | Julie M. Jones | A. E. Grant | D. McKenna-Yasek | Lesley A Everett | L. Everett | Clement Y. Chow | Guy M. Lenk | Robert H. Brown
[1] R. Bronson,et al. VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse , 2008, The EMBO journal.
[2] M. Meisler,et al. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. , 2008, Brain : a journal of neurology.
[3] A. Durr,et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. , 2008, American journal of human genetics.
[4] S. Morrison,et al. Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice , 2007, Proceedings of the National Academy of Sciences.
[5] B. Traynor,et al. Genetics of sporadic amyotrophic lateral sclerosis. , 2007, Human molecular genetics.
[6] J. Lupski,et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J , 2007, Nature.
[7] E. Chouery,et al. G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H , 2007, Neuromuscular Disorders.
[8] U. Suter,et al. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. , 2007, American journal of human genetics.
[9] P. Camilli,et al. Phosphoinositides' link to neurodegeneration , 2007, Nature Medicine.
[10] Adrian R. Krainer,et al. Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization , 2007, Nucleic acids research.
[11] Jeremy G. Carlton,et al. The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport , 2006, Journal of Cell Science.
[12] Robert H. Brown,et al. Molecular biology of amyotrophic lateral sclerosis: insights from genetics , 2006, Nature Reviews Neuroscience.
[13] I. Vořechovský,et al. Aberrant 3′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization , 2006, Nucleic acids research.
[14] J. Fink,et al. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. , 2006, Archives of neurology.
[15] L. Weisman,et al. The Vac14p–Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover , 2006, The Journal of cell biology.
[16] K. Zerres,et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. , 2003, Human molecular genetics.
[17] P. Parker,et al. Sac phosphatase domain proteins. , 2000, The Biochemical journal.
[18] Aldo Quattrone,et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 , 2000, Nature Genetics.
[19] Stéphanie Baulac,et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 , 2000, Nature Genetics.