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Publications

Identification of two compound heterozygousVPS13Alarge deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

Spieler D. et al, (2020), Molecular Genetics & Genomic Medicine, 8

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

Yeshaw WM. et al, (2019), eLife, 8

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

Guidi LG. et al, (2018), Scientific Reports, 8

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

Guidi LG. et al, (2018), European Journal of Neuroscience, 48, 3212 - 3233

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

Guidi L. et al, (2018)

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

Guidi LG. et al, (2017), Cerebral Cortex, 27, 5831 - 5845

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

Martinez-Garay I. et al, (2017), Brain Structure and Function, 222, 1367 - 1384

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

Franquinho F. et al, (2017), Cerebral Cortex, 27, 1732 - 1747

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain

Vonk JJ. et al, (2017), PLOS ONE, 12, e0170106 - e0170106

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

Velayos-Baeza A. and Danek A., (2017), Alzheimer Disease & Associated Disorders, 31, 80 - 81

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

Pappas SS. et al, (2017), Tremor and other hyperkinetic movements (New York, N.Y.), 7

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

Mehta ZB. et al, (2016), American Journal of Physiology-Endocrinology and Metabolism, 311, E488 - E507

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

Yang R-Y. et al, (2016), PLOS ONE, 11, e0153534 - e0153534

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

Nagy A. et al, (2015), Movement Disorders Clinical Practice, 2, 182 - 186

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

Holloway ZG. et al, (2013), Molecular Biology of the Cell, 24, 1735 - 1748

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

Walker RH. et al, (2012), Neurology, 79, 198 - 199

Autosomal recessive transmission of chorea-acanthocytosis confirmed

Danek A. et al, (2012), Acta Neuropathologica, 123, 905 - 906

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred

Velayos-Baeza A., (2011), Archives of Neurology, 68, 1330 - 1330

Functional Analysis of the Phycomyces carRA Gene Encoding the Enzymes Phytoene Synthase and Lycopene Cyclase

Sanz C. et al, (2011), PLoS ONE, 6, e23102 - e23102

The Dyslexia-associated KIAA0319 Protein Undergoes Proteolytic Processing with γ-Secretase-independent Intramembrane Cleavage

Velayos-Baeza A. et al, (2010), Journal of Biological Chemistry, 285, 40148 - 40162

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