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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 485 - 494 (10page)
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Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the VPS13B gene are associated with Cohen syndrome and other cognitive disorders such as intellectual disabilities and autism spectrum disorder (ASD). However, the pathophysiology of VPS13B-associated cognitive deficits is unclear, in part, due to the lack of animal models. Here, we generated a Vps13b exon 2 deletion mutant mouse and analyzed the behavioral phenotypes. We found that Vps13b mutant mice showed reduced activity in open field test and significantly shorter latency to fall in the rotarod test, suggesting that the mutants have motor deficits. In addition, we found that Vps13b mutant mice showed deficits in spatial learning in the hidden platform version of the Morris water maze. The Vps13b mutant mice were normal in other behaviors such as anxiety-like behaviors, working memory and social behaviors. Our results suggest that Vps13b mutant mice may recapitulate key clinical symptoms in Cohen syndrome such as intellectual disability and hypotonia. Vps13b mutant mice may serve as a useful model to investigate the pathophysiology of VPS13B-associated disorders.
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참고문헌 (37)
참고문헌 신청
Velayos-Baeza A / 2004 / Analysis of the human VPS13 gene family / Genomics 84:536~549
Lesage S / 2016 / Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/parkin-dependent mitophagy / Am J Hum Genet 98:500~513
Rampoldi L / 2001 / A conserved sorting-associated protein is mutant in choreaacanthocytosis / Nat Genet 28:119~120
Ueno T / 2001 / Cellular origin of endochondral ossification from grafted periosteum / Anat Rec 264:348~357
Kolehmainen J / 2003 / Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport / Am J Hum Genet 72:1359~1369
Lesage S / 2016 / Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/parkin-dependent mitophagy / Am J Hum Genet 98:500~513
Rampoldi L / 2001 / A conserved sorting-associated protein is mutant in choreaacanthocytosis / Nat Genet 28:119~120
Ueno T / 2001 / Cellular origin of endochondral ossification from grafted periosteum / Anat Rec 264:348~357
Kolehmainen J / 2003 / Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport / Am J Hum Genet 72:1359~1369
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