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

по Velayos-Baeza, Antonio, Danek, Adrian
Опубликовано в: Alzheimer Dis Assoc Disord (2017)

Autosomal recessive transmission of chorea-acanthocytosis confirmed

по Danek, Adrian, Bader, Benedikt, Velayos-Baeza, Antonio, Walker, Ruth H.
Опубликовано в: Acta Neuropathol (2012)

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

по Levecque, Clotilde, Velayos-Baeza, Antonio, Holloway, Zoe G., Monaco, Anthony P.
Опубликовано 2009

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

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

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

по Nagy, Anna, Noyce, Alastair, Velayos‐Baeza, Antonio, Lees, Andrew J., Warner, Thomas T., Ling, Helen
Опубликовано в: Mov Disord Clin Pract (2015)

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

по Yang, Ri-Yao, Xue, Huiting, Yu, Lan, Velayos-Baeza, Antonio, Monaco, Anthony P., Liu, Fu-Tong
Опубликовано в: PLoS One (2016)

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

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

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

по Guidi, Luiz G, Mattley, Jane, Martinez-Garay, Isabel, Monaco, Anthony P, Linden, Jennifer F, Velayos-Baeza, Antonio, Molnár, Zoltán
Опубликовано в: Cereb Cortex (2017)

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

по Guidi, Luiz G., Holloway, Zoe G., Arnoult, Christophe, Ray, Pierre F., Monaco, Anthony P., Molnár, Zoltán, Velayos-Baeza, Antonio
Опубликовано в: Sci Rep (2018)

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

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

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

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

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred

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

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

по 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.
Опубликовано в: 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

по 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.
Опубликовано в: Am J Physiol Endocrinol Metab (2016)

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

по 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
Опубликовано в: Brain Struct Funct (2016)

VPS13D promotes peroxisome biogenesis

по 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.
Опубликовано в: J Cell Biol (2021)

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain

по 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.
Опубликовано в: PLoS One (2017)

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

по 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
Опубликовано в: eLife (2019)

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

по 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.
Опубликовано в: Tremor Other Hyperkinet Mov (N Y) (2017)