Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Antonio Velayos-Baeza"'
Autor:
Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Chorea‐acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic
Externí odkaz:
https://doaj.org/article/87d6d31fc1f649f3ae452680d792cfdc
Autor:
Wondwossen M Yeshaw, Marianne van der Zwaag, Francesco Pinto, Liza L Lahaye, Anita IE Faber, Rubén Gómez-Sánchez, Amalia M Dolga, Conor Poland, Anthony P Monaco, Sven CD van IJzendoorn, Nicola A Grzeschik, Antonio Velayos-Baeza, Ody CM Sibon
Publikováno v:
eLife, Vol 8 (2019)
The VPS13A gene is associated with the neurodegenerative disorder Chorea Acanthocytosis. It is unknown what the consequences are of impaired function of VPS13A at the subcellular level. We demonstrate that VPS13A is a peripheral membrane protein, ass
Externí odkaz:
https://doaj.org/article/82c95e0d7eb64c9cabeaa87ffdcdcbf4
Autor:
Samuel S. Pappas, Juan Bonifacino, Adrian Danek, William T. Dauer, Mithu De, Lucia De Franceschi, Gilbert DiPaolo, Robert Fuller, Volker Haucke, Andreas Hermann, Benoit Kornmann, Bernhard Landwehrmeyer, Johannes Levin, Aaron M. Neiman, Dobrila D. Rudnicki, Ody Sibon, Antonio Velayos-Baeza, Jan J. Vonk, Ruth H. Walker, Lois S. Weisman, Roger L. Albin
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collecti
Externí odkaz:
https://doaj.org/article/a53376afb1d64e0ca424ee28d941ea19
Autor:
Jan J Vonk, Wondwossen M Yeshaw, Francesco Pinto, Anita I E Faber, Liza L Lahaye, Bart Kanon, Marianne van der Zwaag, Antonio Velayos-Baeza, Raimundo Freire, Sven C van IJzendoorn, Nicola A Grzeschik, Ody C M Sibon
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170106 (2017)
Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A) gene, which is conserved from y
Externí odkaz:
https://doaj.org/article/5fc263d2c7534130bc21e94d7fab48dd
Autor:
Peter A. Perrino, Renee Y. Chasse, Anthony P. Monaco, Zoltán Molnár, Antonio Velayos‐Baeza, R. Holly Fitch
Publikováno v:
Genes, Brain and Behavior. 21
Developmental dyslexia is a common neurodevelopmental disorder characterized by difficulties in reading and writing. Although underlying biological and genetic mechanisms remain unclear, anomalies in phonological processing and auditory processing ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65460adcafef1dc2a48dc56bbf2e7fc2
https://doi.org/10.1111/gbb.12808
https://doi.org/10.1111/gbb.12808
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153534 (2016)
Galectin-12, a member of the galectin family of β-galactoside-binding animal lectins, is preferentially expressed in adipocytes and required for adipocyte differentiation in vitro. This protein was recently found to regulate lipolysis, whole body ad
Externí odkaz:
https://doaj.org/article/e5b859b97bbf40f38b6633ef0bfb06e2
Autor:
Dragan Maric, Gil Kanfer, William A. Prinz, Hetal V. Shah, Eric H. Baehrecke, Heather Baldwin, Richard J. Youle, Chunxin Wang, Norbert Brüggemann, Allyson L. Anding, Antonio Velayos-Baeza, Marija Dulovic-Mahlow
Publikováno v:
The Journal of Cell Biology
The VPS13 proteins (VPS13A–D) are thought to mediate lipid transport between organelles and are linked to distinct neurological disorders in humans. Baldwin et al. found that, in addition to known involvement in mitochondrial morphology, VPS13D is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc3193a286b8d5517adfdd5c9b30de7c
https://pubmed.ncbi.nlm.nih.gov/33891012
https://pubmed.ncbi.nlm.nih.gov/33891012
Autor:
Antonio Velayos-Baeza, Conor Poland, Amalia M. Dolga, Rubén Gómez-Sánchez, Anita I. E. Faber, Nicola A. Grzeschik, Anthony P. Monaco, Francesco Pinto, Ody C. M. Sibon, Wondwossen M Yeshaw, Liza L. Lahaye, Sven C.D. van IJzendoorn, Marianne van der Zwaag
Publikováno v:
eLife, 8:43561. ELIFE SCIENCES PUBLICATIONS LTD
eLife, Vol 8 (2019)
eLife
eLife, Vol 8 (2019)
eLife
The VPS13A gene is associated with the neurodegenerative disorder Chorea Acanthocytosis. It is unknown what the consequences are of impaired function of VPS13A at the subcellular level. We demonstrate that VPS13A is a peripheral membrane protein, ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7e32d594a9211f0604d270810eeb77
https://doi.org/10.7554/elife.43561
https://doi.org/10.7554/elife.43561
Autor:
Anita I. E. Faber, Nicola A. Grzeschik, Marianne van der Zwaag, Antonio Velayos-Baeza, Rubén Gómez-Sánchez, Liza L. Lahaye, Conor Poland, Ody C. M. Sibon, Francesco Pinto, Amalia M. Dolga, Wondwossen M Yeshaw, Anthony P. Monaco, Sven C.D. van IJzendoorn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f078ade2d7ec988c1052dfb902adde5
https://doi.org/10.7554/elife.43561.038
https://doi.org/10.7554/elife.43561.038
Autor:
Tomasz Schneider, Luiz G. Guidi, Antonio Velayos-Baeza, Daniel Lyngholm, Zoltán Molnár, Melissa A. G. Bailey, Isabel Martinez-Garay, Timothy Donnison, Zoe G. Holloway, Simon J. B. Butt, Anthony P. Monaco
Publikováno v:
Brain Structure & Function
Developmental dyslexia is a common disorder with a strong genetic component, but the underlying molecular mechanisms are still unknown. Several candidate dyslexia-susceptibility genes, including KIAA0319, DYX1C1, and DCDC2, have been identified in hu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d5dc7c3a0b1672a1dcc0dfcab3a071e
https://doi.org/10.1007/s00429-016-1282-1
https://doi.org/10.1007/s00429-016-1282-1