List of works - Antonio Velayos-Baeza

A novel fungal prenyl diphosphate synthase in the dimorphic zygomycete Mucor circinelloides.

scientific article published on 13 March 2004

AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

scientific article published on 10 July 2018

Alternative splicing in the dyslexia-associated gene KIAA0319

scientific article

Analysis of the human VPS13 gene family

scientific article

Autosomal recessive transmission of chorea-acanthocytosis confirmed.

scientific article

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

scientific article published on 21 June 2016

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred

scientific article

Chorein Deficiency and Alzheimer Disease: An Intriguing, Yet Premature Speculation

scientific article published on 24 January 2017

Chorein detection for the diagnosis of chorea-acanthocytosis

scientific article published on August 2004

Complementation Analysis of Carotenogenic Mutants of Mucor circinelloides ⬇️

scientific article published on August 1, 1997

Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative

scientific article published on 26 July 2008

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain.

scientific article

Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.

scientific article published on 15 February 2017

Functional analysis of the Phycomyces carRA gene encoding the enzymes phytoene synthase and lycopene cyclase.

scientific article

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility

article

Identification of VPS13C as a Galectin-12-Binding Protein That Regulates Galectin-12 Protein Stability and Adipogenesis

scientific article

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis

scientific article

Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis

scientific article published on 14 February 2020

Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing.

scientific article

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia

scientific article

LRRTM1 protein is located in the endoplasmic reticulum (ER) in mammalian cells

article published in 2007

Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis

scientific article published on 16 March 2015

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis

scientific article published on 01 July 2012

Normal radial migration and lamination are maintained in dyslexia-susceptibility candidate gene homolog Kiaa0319 knockout mice.

scientific article

The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling

scientific article

The Function of Chorein

The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage

scientific article published on 13 October 2010

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms

scientific article published on 6 December 2007

The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway

scientific article

The neuronal migration hypothesis of dyslexia: A critical evaluation 30 years on

scientific article published on 06 October 2018

The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps ⬇️

scientific article published on 17 April 2013

List of works by Antonio Velayos-Baeza

A novel fungal prenyl diphosphate synthase in the dimorphic zygomycete Mucor circinelloides.

AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

Alternative splicing in the dyslexia-associated gene KIAA0319

Analysis of the human VPS13 gene family

Autosomal recessive transmission of chorea-acanthocytosis confirmed.

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

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred

Chorein Deficiency and Alzheimer Disease: An Intriguing, Yet Premature Speculation

Chorein detection for the diagnosis of chorea-acanthocytosis

Complementation Analysis of Carotenogenic Mutants of Mucor circinelloides ⬇️

Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain.

Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.

Functional analysis of the Phycomyces carRA gene encoding the enzymes phytoene synthase and lycopene cyclase.

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility

Identification of VPS13C as a Galectin-12-Binding Protein That Regulates Galectin-12 Protein Stability and Adipogenesis

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis

Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis

Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing.

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia

LRRTM1 protein is located in the endoplasmic reticulum (ER) in mammalian cells

Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis

Normal radial migration and lamination are maintained in dyslexia-susceptibility candidate gene homolog Kiaa0319 knockout mice.

The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling

The Function of Chorein

The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms

The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway

The neuronal migration hypothesis of dyslexia: A critical evaluation 30 years on

The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps ⬇️