Lista de obras - Antonio Velayos Baeza - Dominio Público Uruguay

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

Alternative splicing in the dyslexia-associated gene KIAA0319

artículo científico publicado en 2007

Analysis of the human VPS13 gene family

artículo científico publicado en 2004

Autosomal recessive transmission of chorea-acanthocytosis confirmed.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Chorein detection for the diagnosis of chorea-acanthocytosis

artículo científico publicado en 2004

Complementation Analysis of Carotenogenic Mutants ofMucor circinelloides ⬇️

artículo científico publicado el 1 de agosto de 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

The Function of Chorein

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 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 ⬇️

artículo científico publicado en 2013

Lista de obras de 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 ofMucor 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 ⬇️