Search Results - "Velayos‐Baeza, Antonio"

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

“…The capacity for language is one of the key features underlying the complexity of human cognition and its evolution. However, little is known about the…”
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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

“…The gene is associated with the neurodegenerative disorder Chorea Acanthocytosis. It is unknown what the consequences are of impaired function of VPS13A at the…”
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An Autopsy Series of Seven Cases of VPS13A Disease (Chorea‐Acanthocytosis) by Ditzel, Ricky M., Walker, Ruth H., Nirenberg, Melissa J., Tetlow, Amber M., Farrell, Kurt, Lind‐Watson, Kourtni J., Thorn, Emma L., Dangoor, Diana K., Gordon, Ronald, De Sanctis, Claudia, Barton, Brandon, Karp, Barbara I., Kirby, Alana, Lett, Debra J., Mente, Karin, Simon, David K., Velayos‐Baeza, Antonio, Miltenberger‐Miltenyi, Gabriel, Humphrey, Jack, Crary, John F.

“…Background Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea‐acanthocytosis, is a rare neurodegenerative disorder caused by…”
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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

“…Background Chorea‐acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the…”
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Chorein detection for the diagnosis of chorea-acanthocytosis by Dobson-Stone, Carol, Velayos-Baeza, Antonio, Filippone, Lea A., Westbury, Sarah, Storch, Alexander, Erdmann, Torsten, Wroe, Stephen J., Leenders, Klaus L., Lang, Anthony E., Dotti, Maria Teresa, Federico, Antonio, Mohiddin, Saidi A., Fananapazir, Lameh, Daniels, Geoff, Danek, Adrian, Monaco, Anthony P.

“…Chorea‐acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused…”
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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

“…The VPS13 gene family consists of VPS13A-D in mammals. Although all four genes have been linked to human diseases, their cellular functions are poorly…”
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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

“…Chorea‐acanthocytosis (ChAc) is a neurodegenerative condition predominantly manifesting with chorea and often acanthocytes on peripheral blood film. Abnormal…”
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Rapid auditory processing and medial geniculate nucleus anomalies in Kiaa0319 knockout mice by Perrino, Peter A., Chasse, Renee Y., Monaco, Anthony P., Molnár, Zoltán, Velayos‐Baeza, Antonio, Fitch, R. Holly

“…Developmental dyslexia is a common neurodevelopmental disorder characterized by difficulties in reading and writing. Although underlying biological and genetic…”
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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

“…Galectin-12, a member of the galectin family of β-galactoside-binding animal lectins, is preferentially expressed in adipocytes and required for adipocyte…”
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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

“…Study of knockout (KO) mice has helped understand the link between many genes/proteins and human diseases. Identification of infertile KO mice provides…”
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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

“…The transporter ATP7A mediates systemic copper absorption and provides cuproenzymes in the trans-Golgi network (TGN) with copper. To regulate metal…”
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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

“…Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of…”
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Autosomal recessive transmission of chorea-acanthocytosis confirmed by Danek, Adrian, Bader, Benedikt, Velayos-Baeza, Antonio, Walker, Ruth H.

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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

“…Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive…”
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Chorein Deficiency and Alzheimer Disease: An Intriguing, Yet Premature Speculation by Velayos-Baeza, Antonio, Danek, Adrian

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Chorein deficiency and Alzheimer´s disease: an intriguing, yet premature speculation by Velayos-Baeza, Antonio, Danek, Adrian

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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

“…To determine the molecular nature of the neurological disease in the seminal family reported by Critchley et al in the 1960s, characterized by a hyperkinetic…”
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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

“…Developmental dyslexia is a neurodevelopmental disorder that affects reading ability caused by genetic and non-genetic factors. Amongst the susceptibility…”
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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

“…KIAA0319 is a transmembrane protein associated with dyslexia with a presumed role in neuronal migration. Here we show that KIAA0319 expression is not…”
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The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms by Velayos-Baeza, Antonio, Toma, Claudio, Paracchini, Silvia, Monaco, Anthony P.

“…The KIAA0319 gene has been recently associated with developmental dyslexia and shown to be involved in neuronal migration. The deduced KIAA0319 protein…”
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