Chorein deficiency and Alzheimer´s disease: an intriguing, yet premature speculation

by Velayos-Baeza, Antonio, Danek, Adrian
Published in Alzheimer Dis Assoc Disord (2017)

Autosomal recessive transmission of chorea-acanthocytosis confirmed

by Danek, Adrian, Bader, Benedikt, Velayos-Baeza, Antonio, Walker, Ruth H.
Published in Acta Neuropathol (2012)

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

by Levecque, Clotilde, Velayos-Baeza, Antonio, Holloway, Zoe G., Monaco, Anthony P.
Published 2009

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

by Velayos-Baeza, Antonio, Levecque, Clotilde, Kobayashi, Kazuhiro, Holloway, Zoe G., Monaco, Anthony P.
Published 2010

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

by Nagy, Anna, Noyce, Alastair, Velayos‐Baeza, Antonio, Lees, Andrew J., Warner, Thomas T., Ling, Helen
Published in Mov Disord Clin Pract (2015)

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

by Yang, Ri-Yao, Xue, Huiting, Yu, Lan, Velayos-Baeza, Antonio, Monaco, Anthony P., Liu, Fu-Tong
Published in PLoS One (2016)

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

by Holloway, Zoe G., Velayos-Baeza, Antonio, Howell, Gareth J., Levecque, Clotilde, Ponnambalam, Sreenivasan, Sztul, Elizabeth, Monaco, Anthony P.
Published 2013

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

by Guidi, Luiz G, Mattley, Jane, Martinez-Garay, Isabel, Monaco, Anthony P, Linden, Jennifer F, Velayos-Baeza, Antonio, Molnár, Zoltán
Published in Cereb Cortex (2017)

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

by Guidi, Luiz G., Holloway, Zoe G., Arnoult, Christophe, Ray, Pierre F., Monaco, Anthony P., Molnár, Zoltán, Velayos-Baeza, Antonio
Published in Sci Rep (2018)

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

by Guidi, Luiz G., Velayos‐Baeza, Antonio, Martinez‐Garay, Isabel, Monaco, Anthony P., Paracchini, Silvia, Bishop, Dorothy V. M., Molnár, Zoltán
Published in Eur J Neurosci (2018)

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

by Spieler, Derek, Velayos‐Baeza, Antonio, Mühlbäck, Alžbeta, Castrop, Florian, Maegerlein, Christian, Slotta‐Huspenina, Julia, Bader, Benedikt, Haslinger, Bernhard, Danek, Adrian
Published in Mol Genet Genomic Med (2020)

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred

by Velayos-Baeza, Antonio, Holinski-Feder, Elke, Neitzel, Birgit, Bader, Benedikt, Critchley, Edmund M. R., Monaco, Anthony P., Danek, Adrian, Walker, Ruth H.
Published in Arch Neurol (2011)

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

by Franquinho, Filipa, Nogueira-Rodrigues, Joana, Duarte, Joana M., Esteves, Sofia S., Carter-Su, Christin, Monaco, Anthony P., Molnár, Zoltán, Velayos-Baeza, Antonio, Brites, Pedro, Sousa, Mónica M.
Published in Cereb Cortex (2017)

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

by Mehta, Zenobia B., Fine, Nicholas, Pullen, Timothy J., Cane, Matthew C., Hu, Ming, Chabosseau, Pauline, Meur, Gargi, Velayos-Baeza, Antonio, Monaco, Anthony P., Marselli, Lorella, Marchetti, Piero, Rutter, Guy A.
Published in Am J Physiol Endocrinol Metab (2016)

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

by Martinez-Garay, Isabel, Guidi, Luiz G., Holloway, Zoe G., Bailey, Melissa A. G., Lyngholm, Daniel, Schneider, Tomasz, Donnison, Timothy, Butt, Simon J. B., Monaco, Anthony P., Molnár, Zoltán, Velayos-Baeza, Antonio
Published in Brain Struct Funct (2016)

VPS13D promotes peroxisome biogenesis

by Baldwin, Heather A., Wang, Chunxin, Kanfer, Gil, Shah, Hetal V., Velayos-Baeza, Antonio, Dulovic-Mahlow, Marija, Brüggemann, Norbert, Anding, Allyson, Baehrecke, Eric H., Maric, Dragan, Prinz, William A., Youle, Richard J.
Published in J Cell Biol (2021)

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain

by Vonk, Jan J., Yeshaw, Wondwossen M., Pinto, Francesco, Faber, Anita I. E., Lahaye, Liza L., Kanon, Bart, van der Zwaag, Marianne, Velayos-Baeza, Antonio, Freire, Raimundo, van IJzendoorn, Sven C., Grzeschik, Nicola A., Sibon, Ody C. M.
Published in PLoS One (2017)

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

by Yeshaw, Wondwossen M, van der Zwaag, Marianne, Pinto, Francesco, Lahaye, Liza L, Faber, Anita IE, Gómez-Sánchez, Rubén, Dolga, Amalia M, Poland, Conor, Monaco, Anthony P, van IJzendoorn, Sven CD, Grzeschik, Nicola A, Velayos-Baeza, Antonio, Sibon, Ody CM
Published in eLife (2019)

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

by Pappas, Samuel S., Bonifacino, Juan, Danek, Adrian, Dauer, William T., De, Mithu, De Franceschi, Lucia, DiPaolo, Gilbert, Fuller, Robert, Haucke, Volker, Hermann, Andreas, Kornmann, Benoit, Landwehrmeyer, Bernhard, Levin, Johannes, Neiman, Aaron M., Rudnicki, Dobrila D., Sibon, Ody, Velayos-Baeza, Antonio, Vonk, Jan J., Walker, Ruth H., Weisman, Lois S., Albin, Roger L.
Published in Tremor Other Hyperkinet Mov (N Y) (2017)