2019
DOI: 10.1242/dmm.036830
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Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis

Abstract: Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disease associated with mutations in the human VPS13A gene. The mechanism of ChAc pathogenesis is unclear. A simple yeast model was used to investigate the function of the single yeast VSP13 orthologue, Vps13. Vps13, like human VPS13A, is involved in vesicular protein transport, actin cytoskeleton organisation and phospholipid metabolism. A newly identified phenotype of the vps13Δ mutant, sodium dodecyl sulphate (SDS) hypersensitivity, was used to screen… Show more

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Cited by 17 publications
(48 citation statements)
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“…As S. cerevisiae contains a homolog of the disease-associated VPS13A–D genes, disease models can be created by its deletion or by introducing mutations corresponding to the ones found in patients. These approaches have been used for modelling and studying diseases associated with VPS13 genes in previous studies [ 41 , 42 , 43 ]. The yeast mutant devoid of the VPS13 gene ( vps13 Δ), as well as the vps13-I2749R strain—carrying a mutation in VPS13 corresponding to one found in a ChAc patient—were viable but showed defects in protein trafficking [ 9 ].…”
Section: Introductionmentioning
confidence: 99%
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“…As S. cerevisiae contains a homolog of the disease-associated VPS13A–D genes, disease models can be created by its deletion or by introducing mutations corresponding to the ones found in patients. These approaches have been used for modelling and studying diseases associated with VPS13 genes in previous studies [ 41 , 42 , 43 ]. The yeast mutant devoid of the VPS13 gene ( vps13 Δ), as well as the vps13-I2749R strain—carrying a mutation in VPS13 corresponding to one found in a ChAc patient—were viable but showed defects in protein trafficking [ 9 ].…”
Section: Introductionmentioning
confidence: 99%
“…The yeast mutant devoid of the VPS13 gene ( vps13 Δ), as well as the vps13-I2749R strain—carrying a mutation in VPS13 corresponding to one found in a ChAc patient—were viable but showed defects in protein trafficking [ 9 ]. We have recently found that both vps13 mutant cells are hypersensitive to very low amounts of the detergent sodium dodecyl sulphate (SDS) [ 43 ]. We used this phenotype to screen for multicopy suppressor genes and identified the fragment of the MYO3 gene encoding type I myosin and other genes.…”
Section: Introductionmentioning
confidence: 99%
“…1). Poza podobieństwami w budowie Vps13 do białek transportujących lipidy, na pełnienie funkcji transportowej w miejscach kontaktu błon wskazuje supresja wybranych fenotypów mutanta drożdży pozbawionego białka Vps13 przez nadprodukcję fragmentu białka Myo3 [67]. U drożdży miozyna Myo3 wraz z białkami ORP (Osh2/3), uczestniczy w tworzeniu miejsc kontaktu błon ER z błoną komórkową [68].…”
Section: Vps13 U Drożdżyunclassified
“…Może on być związany ze zdolnością PA do zakrzywiania błony, która ma ulec fuzji [73], ewentualnie mógłby uczestniczyć w rekrutowaniu białek niezbędnych w procesie fuzji błon. Ponadto, w mu-tancie vps13 drożdży obserwuje się zaburzenia w procesie endocytozy [65,67], a PA odgrywa rolę w tym procesie na etapie uwalniania pęcherzyków endocytarnych z błony komórkowej. Dynamina, GTPaza niezbędna do uwolnienia pęcherzyków, wiąże się z błoną w obecności m.in.…”
Section: Kwas Fosfatydowy a Potencjalna Funkcja Vps13unclassified
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