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Items: 17

1.
Yunis-Varón syndrome caused by biallelic VAC14 mutations
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Care4Rare Consortium, Philippe M Campeau, Kym M Boycott, Jean Michaud, André BP van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Eur J Hum Genet. 2017 Sep; 25(9): 1049–1054. Published online 2017 Jun 21. doi: 10.1038/ejhg.2017.99
PMCID:
PMC5558182
ArticlePDF–1.6M
2.
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay Burrage, Peter Turnpenny, Jorge Román Corona-Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee
Am J Hum Genet. 2013 May 2; 92(5): 781–791. doi: 10.1016/j.ajhg.2013.03.020
PMCID:
PMC3644641
ArticlePDF–1.3M
3.
Yunis-Varon syndrome with severe osteodysplasty.
C Garrett, A C Berry, R H Simpson, C M Hall
J Med Genet. 1990 Feb; 27(2): 114–121. doi: 10.1136/jmg.27.2.114
PMCID:
PMC1016932
SummaryPage BrowsePDF–1.9M
4.
Congenital heart malformation in Yunis-Varón syndrome.
L C Adès, L L Morris, M Richardson, C Pearson, E A Haan
J Med Genet. 1993 Sep; 30(9): 788–792. doi: 10.1136/jmg.30.9.788
PMCID:
PMC1016540
SummaryPage BrowsePDF–1.6M
5.
Further delineation of the Yunis-Varon syndrome.
R C Hennekam, C Vermeulen-Meiners
J Med Genet. 1989 Jan; 26(1): 55–58. doi: 10.1136/jmg.26.1.55
PMCID:
PMC1015538
SummaryPage BrowsePDF–804K
6.
Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c
Xu Cao, Guy M Lenk, Miriam H Meisler
G3 (Bethesda) 2023 Aug; 13(8): jkad007. Published online 2023 Jan 24. doi: 10.1093/g3journal/jkad007
PMCID:
PMC10411592
ArticlePDF–320K
7.
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice
Guy M. Lenk, Miriam H. Meisler
Mol Genet Metab. Author manuscript; available in PMC 2023 Jul 24.
Published in final edited form as: Mol Genet Metab. 2022 Dec; 137(4): 382–387. Published online 2022 Nov 12. doi: 10.1016/j.ymgme.2022.11.004
PMCID:
PMC10364190
ArticlePDF–505K
8.
Novel VAC14 variants identified in two Chinese siblings with childhood‐onset striatonigral degeneration
Shuang Liao, Tingting Chen, Ying Dai, Yanqin Wang, Fangrui Wu, Min Zhong
Mol Genet Genomic Med. 2020 Feb; 8(2): e1101. Published online 2019 Dec 26. doi: 10.1002/mgg3.1101
PMCID:
PMC7005630
ArticlePDF–1.0M
9.
Cerebral hypomyelination associated with biallelic variants of FIG4
Guy M. Lenk, Ian R. Berry, Chloe A. Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Fanjul-Fernandez Miriam, Rodriguez-Casero Victoria, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Broad Center for Mendelian Genomics, Susan M. White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y. Tan, Richard J. Leventer, John H. Livingston, Miriam H. Meisler
Hum Mutat. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Hum Mutat. 2019 May; 40(5): 619–630. Published online 2019 Feb 28. doi: 10.1002/humu.23720
PMCID:
PMC6467804
ArticlePDF–583K
10.
Protective role of the lipid phosphatase Fig4 in the adult nervous system
Yevgeniya A Mironova, Jing-Ping Lin, Ashley L Kalinski, Lucas D Huffman, Guy M Lenk, Leif A Havton, Miriam H Meisler, Roman J Giger
Hum Mol Genet. 2018 Jul 15; 27(14): 2443–2453. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy145
PMCID:
PMC6030899
ArticlePDF–1.3M
11.
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Guy M. Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A. Hsu, Wolfram S. Kunz, Miriam H. Meisler, Rafal Ploski
Am J Hum Genet. 2016 Jul 7; 99(1): 188–194. Published online 2016 Jun 9. doi: 10.1016/j.ajhg.2016.05.008
PMCID:
PMC5005439
ArticlePDF–1.0M
12.
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function
Rajnish Bharadwaj, Kathleen M. Cunningham, Ke Zhang, Thomas E. Lloyd
Hum Mol Genet. 2016 Feb 15; 25(4): 681–692. Published online 2015 Dec 11. doi: 10.1093/hmg/ddv505
PMCID:
PMC4743688
ArticlePDF–1.0M
13.
Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene
Guy M. Lenk, Christen M. Frei, Ashley C. Miller, Rachel C. Wallen, Yevgeniya A. Mironova, Roman J. Giger, Miriam H. Meisler
Hum Mol Genet. 2016 Jan 15; 25(2): 340–347. Published online 2015 Nov 24. doi: 10.1093/hmg/ddv480
PMCID:
PMC4706117
ArticlePDF–543K
14.
Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells
Jianlong Zou, Bo Hu, Sezgi Arpag, Qing Yan, Audra Hamilton, Yuan-Shan Zeng, Carlos G. Vanoye, Jun Li
J Neurosci. 2015 Apr 29; 35(17): 6801–6812. doi: 10.1523/JNEUROSCI.4442-14.2015
PMCID:
PMC4412898
ArticlePDF–3.0M
15.
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
Ilaria Vaccari, Antonietta Carbone, Stefano Carlo Previtali, Yevgeniya A. Mironova, Valeria Alberizzi, Roberta Noseda, Cristina Rivellini, Francesca Bianchi, Ubaldo Del Carro, Maurizio D'Antonio, Guy M. Lenk, Lawrence Wrabetz, Roman J. Giger, Miriam H. Meisler, Alessandra Bolino
Hum Mol Genet. 2015 Jan 15; 24(2): 383–396. Published online 2014 Sep 3. doi: 10.1093/hmg/ddu451
PMCID:
PMC4275070
ArticlePDF–1.8M
16.
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
Stéphanie Baulac, Guy M. Lenk, Béatrice Dufresnois, Bouchra Ouled Amar Bencheikh, Philippe Couarch, Julie Renard, Peter A. Larson, Cole J. Ferguson, Eric Noé, Karine Poirier, Christine Hubans, Stéphanie Ferreira, Renzo Guerrini, Reda Ouazzani, Khalid Hamid El Hachimi, Miriam H. Meisler, Eric Leguern
Neurology. 2014 Mar 25; 82(12): 1068–1075. doi: 10.1212/WNL.0000000000000241
PMCID:
PMC3962989
ArticlePDF–966K
17.
Mouse models of PI(3,5)P2 deficiency with impaired lysosome function
Guy M. Lenk, Miriam H. Meisler
Methods Enzymol. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Methods Enzymol. 2014; 534: 245–260. doi: 10.1016/B978-0-12-397926-1.00014-7
PMCID:
PMC4059992
ArticlePDF–472K

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