Dr Antonio Velayos-Baeza
Research
I am involved in two different research projects, in both cases focused on functional aspects:
1. Chorea-acanthocytosis (ChAc), a rare autosomal-recessive disorder that is characterised by progressive neurodegeneration and red cell acanthocytosis, and
2. Developmental dyslexia, the most common of the childhood learning disorders.
In particular, I work on the functional characterisation of the proteins encoded by the genes VPS13A (mutated in ChAc) and KIAA0319 (associated with dyslexia), as well as on similar human proteins.
Little is known about the function of these proteins. Chorein, encoded by gene VPS13A, is a large protein with no known domains. It presents a vesicular-like pattern when over-expressed in mammalian cell lines. KIAA0319 is a highly glycosylated type I membrane protein which contains five PKD domains, and seems to be involved in neuronal migration.
My work focuses on learning as much as possible about the basic properties of these proteins, starting with their characterisation in mammalian cell models, with the aim of using the gained knowledge to study them in neuronal models.
Publications
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Dobson-Stone C., Velayos-Baeza A., Filippone L.A., Westbury S., Storch A., Erdmann T., Wroe S.J., Leenders K.L., Lang A.E., Dotti M.T., Federico A., Mohiddin S.A., Fananapazir L., Daniels G., Danek A., Monaco A.P. (2004) Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol 56: 299-302. (PMID: 15293285)
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Velayos-Baeza A., Vettori A., Copley R.R., Dobson-Stone C., Monaco A.P. (2004) Analysis of the human VPS13 gene family. Genomics 84: 536-549. (PMID: 15498460)
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Dobson-Stone C., Velayos-Baeza A., Jansen A., Andermann F., Dubeau F., Robert F., Summers A., Lang A.E., Chouinard S., Danek A., Andermann E., Monaco A.P. (2005) Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics 6: 151-158. (PMID: 15918062)
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Francks C., Maegawa S., Lauren J., Abrahams B.S., Velayos-Baeza A., Medland S.E., Colella S., Groszer M., McAuley E.Z., Caffrey T.M., Timmusk T., Pruunsild P., Koppel I., Lind P.A., Matsumoto-Itaba N., Nicod J., Xiong L., Joober R., Enard W., Krinsky B., Nanba E., Richardson A.J., Riley B.P., Martin N.G., Strittmatter S.M., Moller H.J., Rujescu D., St Clair D., Muglia P., Roos J.L., Fisher S.E., Wade-Martins R., Rouleau G.A., Stein J.F., Karayiorgou M., Geschwind D.H., Ragoussis J., Kendler K.S., Airaksinen M.S., Oshimura M., DeLisi L.E., Monaco A.P. (2007) LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry 12: 1129-1139, 1057. (PMID: 17667961)
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Velayos-Baeza A., Toma C., da Roza S., Paracchini S., Monaco A.P. (2007) Alternative splicing in the dyslexia-associated gene KIAA0319. Mamm Genome 18: 627-634. (PMID: 17846832)
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Velayos-Baeza A., Lévecque L., Dobson-Stone C., Monaco A.P. (2008) The Function of Chorein. In: Neuroacanthocytosis Syndromes II, Walker RH, Saiki S, Danek A (Eds), Springer-Verlag Berlin Heidelberg, pp 87-105. (ISBN: 978-3-540-71692-1)
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Velayos-Baeza A., Toma C., Paracchini S., Monaco A.P. (2008) The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms. Hum Mol Genet 17: 859-871. (PMID: 18063668)
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Bader B., Velayos-Baeza A., Walker R.H., Danek A. (2009) Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative. Acta Neuropathol 117: 95-96. (PMID: 18661137)
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Levecque C, Velayos-Baeza A, Holloway ZG, Monaco AP. (2009) The dyslexia-associated protein KIAA0319 interacts with Adaptor Protein 2 and follows the classical clathrin-mediated endocytosis pathway. Am J Physiol Cell Physiol. May 6 (PMID: 19419997)
- Dobson-Stone C, Rampoldi L, Bader B, Velayos-Baeza A, Walker RH, Danek A, Monaco AP. (2011) Chorea-Acanthocytosis. In Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2002 Jun 14 [updated 2011 Aug 18]. (PMID: 20301561)
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Velayos-Baeza A, Levecque C, Kobayashi K, Holloway ZG, Monaco AP. (2010) The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage. J Biol Chem. Oct 13 (PMID: 20943657)
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Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH. (2011) Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. Arch Neurol. Oct;68(10):1330-3. (PMID: 21987550)
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