Associated Papers
Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.
Indrawinata K et al.
Frontiers in Molecular Neuroscience, 2023
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S et al.
American Journal of Medical Genetics. Part A, 2021
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.
Jang HM et al.
Bmc Genomics, 2014
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
Greally MT et al.
American Journal of Medical Genetics. Part A, 2014
ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA.
Bahena-Bahena D et al.
Molecular Genetics and Metabolism Reports, 2014
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Fischer B et al.
Human Genetics, 2012
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hucthagowder V et al.
Human Molecular Genetics, 2009
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U et al.
Nature Genetics, 2008
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