Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hucthagowder, Vishwanathan
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. [electronic resource] - Human molecular genetics Jun 2009 - 2149-65 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddp148 doi
Amino Acid Sequence
Apoptosis
Cell Survival
Cells, Cultured
Child, Preschool
Cohort Studies
Cutis Laxa--genetics
Cytoplasmic Vesicles--metabolism
Female
Fibroblasts--cytology
Golgi Apparatus--metabolism
Humans
Infant
Male
Molecular Sequence Data
Mutation
Protein Transport
Proton-Translocating ATPases--chemistry
Tropoelastin--metabolism
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. [electronic resource] - Human molecular genetics Jun 2009 - 2149-65 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddp148 doi
Amino Acid Sequence
Apoptosis
Cell Survival
Cells, Cultured
Child, Preschool
Cohort Studies
Cutis Laxa--genetics
Cytoplasmic Vesicles--metabolism
Female
Fibroblasts--cytology
Golgi Apparatus--metabolism
Humans
Infant
Male
Molecular Sequence Data
Mutation
Protein Transport
Proton-Translocating ATPases--chemistry
Tropoelastin--metabolism