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Keywords: Chorea-acanthocytosis
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Journal Articles

VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation

In collection:
Neurodegenerative Disorders , Rare Disease Translational Research
Sandra Muñoz-Braceras, Alba R. Tornero-Écija, Olivier Vincent, Ricardo Escalante
Journal: Disease Models & Mechanisms
Dis Model Mech (2019) 12 (2): dmm036681.
https://doi.org/10.1242/dmm.036681
Published: 22 February 2019
...Sandra Muñoz-Braceras; Alba R. Tornero-Écija; Olivier Vincent; Ricardo Escalante ABSTRACT Members of the VPS13 family are associated with various human diseases. In particular, the loss of function of VPS13A leads to chorea-acanthocytosis (ChAc), a rare neurodegenerative disease without available...
View article titled, VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation
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Includes: Supplementary data
Journal Articles

Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis

In collection:
Drug Discovery , Neurodegenerative Disorders
Piotr Soczewka, Damian Kolakowski, Iwona Smaczynska-de Rooij, Weronika Rzepnikowska, Kathryn R. Ayscough, Joanna Kaminska, Teresa Zoladek
Journal: Disease Models & Mechanisms
Dis Model Mech (2019) 12 (1): dmm036830.
https://doi.org/10.1242/dmm.036830
Published: 28 January 2019
...Piotr Soczewka; Damian Kolakowski; Iwona Smaczynska-de Rooij; Weronika Rzepnikowska; Kathryn R. Ayscough; Joanna Kaminska; Teresa Zoladek ABSTRACT Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disease associated with mutations in the human VPS13A gene. The mechanism of ChAc pathogenesis...
View article titled, Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in <span class="search-highlight">chorea</span>-<span class="search-highlight">acanthocytosis</span>
Open the PDF for Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in <span class="search-highlight">chorea</span>-<span class="search-highlight">acanthocytosis</span> in another window
Includes: Supplementary data