|
Choy, Christopher H; Saffi, Golam; Gray, Matthew A et al. (2018) Lysosome enlargement during inhibition of the lipid kinase PIKfyve proceeds through lysosome coalescence. J Cell Sci 131:
|
|
Stutterd, Chloe; Diakumis, Peter; Bahlo, Melanie et al. (2017) Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. Ann Clin Transl Neurol 4:859-864
|
|
Lenk, Guy M; Szymanska, Krystyna; Debska-Vielhaber, Grazyna et al. (2016) Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. Am J Hum Genet 99:188-94
|
|
Mironova, Yevgeniya A; Lenk, Guy M; Lin, Jing-Ping et al. (2016) PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms. Elife 5:
|
|
Lenk, Guy M; Frei, Christen M; Miller, Ashley C et al. (2016) Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. Hum Mol Genet 25:340-7
|
|
Vaccari, Ilaria; Carbone, Antonietta; Previtali, Stefano Carlo et al. (2015) Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. Hum Mol Genet 24:383-96
|
|
Lenk, Guy M; Meisler, Miriam H (2014) Mouse models of PI(3,5)P2 deficiency with impaired lysosome function. Methods Enzymol 534:245-60
|
|
Menezes, Manoj P; Waddell, Leigh; Lenk, Guy M et al. (2014) Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord 24:666-70
|
|
Baulac, Stéphanie; Lenk, Guy M; Dufresnois, Béatrice et al. (2014) Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology 82:1068-75
|
|
Campeau, Philippe M; Lenk, Guy M; Lu, James T et al. (2013) Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet 92:781-91
|
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