Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.

Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.

Bibliografische gegevens
Hoofdauteurs:	Bader, B, Velayos-Baeza, A, Walker, R, Danek, A
Formaat:	Journal article
Taal:	English
Gepubliceerd in:	2009

Gelijkaardige items

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
door: Walker, R, et al.
Gepubliceerd in: (2012)

Autosomal recessive transmission of chorea-acanthocytosis confirmed.
door: Danek, A, et al.
Gepubliceerd in: (2012)

Autosomal recessive transmission of chorea-acanthocytosis confirmed
door: Danek, A, et al.
Gepubliceerd in: (2012)

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
door: Dobson-Stone, C, et al.
Gepubliceerd in: (2005)

The genotype and phenotype of chorea-acanthocytosis
door: Bader, B, et al.
Gepubliceerd in: (2008)

Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
door: Spieler, D, et al.
Gepubliceerd in: (2020)

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
door: Velayos-Baeza, A, et al.
Gepubliceerd in: (2011)

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred
door: Velayos-Baeza, A, et al.
Gepubliceerd in: (2011)

Chorea-acanthocytosis genotype in Critchley's original Kentucky neuroacanthocytosis kindred
door: Velayos-Baeza, A, et al.
Gepubliceerd in: (2011)

Chorein detection for the diagnosis of chorea-acanthocytosis.
door: Dobson-Stone, C, et al.
Gepubliceerd in: (2004)

Identification and analysis of the new, Vps13-like gene (V13LG) family that includes CHAC, the gene altered in chorea-acanthocytosis.
door: Velayos, A, et al.
Gepubliceerd in: (2003)

Chorein expression in post-mortem brain tissue of Chorea-Acanthocytosis patients and non-affected controls
door: Bader, B, et al.
Gepubliceerd in: (2007)

Identification and characterisation of the gene for chorea-acanthocytosis.
door: Rampoldi, L, et al.
Gepubliceerd in: (2001)

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
door: Dobson-Stone, C, et al.
Gepubliceerd in: (2002)

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
door: Dobson-Stone, C, et al.
Gepubliceerd in: (2002)

Molecular studies of chorein, the protein altered in chorea-acanthocytosis.
door: Dobson-Stone, C, et al.
Gepubliceerd in: (2003)

Molecular genetics of chorea-acanthocytosis
door: Dobson-Stone, C, et al.
Gepubliceerd in: (2004)

Eighth International Chorea–Acanthocytosis Symposium: summary of workshop discussion and action Points
door: Pappas, S, et al.
Gepubliceerd in: (2017)

Familial mesial temporal lobe epilepsy associated with a deletion mutation in the chorea-acanthocytosis gene
door: Andermann, E, et al.
Gepubliceerd in: (2005)

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
door: Rampoldi, L, et al.
Gepubliceerd in: (2001)

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
door: Rubio, J, et al.
Gepubliceerd in: (1997)

Analysis of the human VPS13 gene family.
door: Velayos-Baeza, A, et al.
Gepubliceerd in: (2004)

Chorein deficiency and Alzheimer disease: an intriguing, yet premature speculation
door: Velayos-Baeza, A, et al.
Gepubliceerd in: (2017)

Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).
door: Rubio, J, et al.
Gepubliceerd in: (1999)

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
door: Bohlega, S, et al.
Gepubliceerd in: (2003)

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain
door: Vonk, JJ, et al.
Gepubliceerd in: (2017)

Identification of VPS13C as a Galectin-12-binding protein that regulates Galectin-12 protein stability and adipogenesis
door: Yang, R, et al.
Gepubliceerd in: (2016)

The chorea of McLeod syndrome.
door: Danek, A, et al.
Gepubliceerd in: (2001)

Chorea.
door: Hu, M, et al.
Gepubliceerd in: (2009)

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility
door: Yeshaw, WM, et al.
Gepubliceerd in: (2019)

Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β cell are associated with glucose intolerance in humans and mice
door: Mehta, Z, et al.
Gepubliceerd in: (2016)

Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.
door: Mehta, Z, et al.
Gepubliceerd in: (2016)

TbVps34, the trypanosome orthologue of Vps34, is required for Golgi complex segregation.
door: Hall, B, et al.
Gepubliceerd in: (2006)

Vps13-Mcp1 interact at vacuole–mitochondria interfaces and bypass ER–mitochondria contact sites
door: John Peter, A, et al.
Gepubliceerd in: (2017)

Thalamotomy for postapoplectic hemiballistic chorea in older adults.
door: Astradsson, A, et al.
Gepubliceerd in: (2010)

Bilateral chorea-ballism after cardiac arrest.
door: Di Lazzaro, V, et al.
Gepubliceerd in: (2005)

Negative Regulation of Vps34 by Cdk Mediated Phosphorylation
door: Furuya, Tsuyoshi, et al.
Gepubliceerd in: (2015)

Are over-confident VPs more likely to be promoted to CEO?
door: Loo, Pei Yu., et al.
Gepubliceerd in: (2012)

A role for Vps13-mediated lipid transfer at the ER-endosome contact site in ESCRT-mediated sorting
door: Suzuki, Sho W., et al.
Gepubliceerd in: (2024)

A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane
door: Guillén-Samander, Andrés, et al.
Gepubliceerd in: (2023)