Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Jan J. Vonk"'
1
Akademický článek
Eighth International Chorea–Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points
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
Zobrazit plný text záznamu
2
Akademický článek
Drosophila Vps13 Is Required for Protein Homeostasis in the Brain.
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
Zobrazit plný text záznamu
3
Akademický článek
Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration
Autor: Rainer Prohaska, Ody C.M. Sibon, Dobrila D. Rudnicki, Adrian Danek, Susan J. Hayflick, Esther M. Verhaag, Jan J. Vonk, Russell L. Margolis, Ruth H. Walker
Publikováno v: Neurobiology of Disease, Vol 46, Iss 3, Pp 607-624 (2012)
The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings
Externí odkaz: https://doaj.org/article/7a5388c5a29a47d5807bb2fed7df2f6c
Zobrazit plný text záznamu
4
The N terminus of the small heat shock protein HSPB7 drives its polyQ aggregation–suppressing activity
Autor: Di Wu, Steven Bergink, Harm H. Kampinga, Felix Salles, Danara Vonk, Martin Haslbeck, Jan J. Vonk, Ronald Melki
Publikováno v: Journal of Biological Chemistry
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2019, 294 (25), pp.9985-9994. ⟨10.1074/jbc.RA118.007117⟩
The Journal of Biological Chemistry, 294(25), 9985-9994. AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
J Biol Chem
Journal of Biological Chemistry, 2019, 294 (25), pp.9985-9994. ⟨10.1074/jbc.RA118.007117⟩
Heat shock protein family B (small) member 7 (HSPB7) is a unique, relatively unexplored member within the family of human small heat shock proteins (HSPBs). Unlike most HSPB family members, HSPB7 does not oligomerize and so far has not been shown to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85b83be206b22c08a13b6f8088e30e97
https://hal-cea.archives-ouvertes.fr/cea-02279247
Zobrazit plný text záznamu
5
Brain, blood, and iron
Autor: Ody C. M. Sibon, Russell L. Margolis, Ruth H. Walker, Adrian Danek, Dobrila D. Rudnicki, Jan J. Vonk, Susan J. Hayflick, Rainer Prohaska, Esther M. Verhaag
Publikováno v: Neurobiology of Disease, Vol 46, Iss 3, Pp 607-624 (2012)
The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e53d9faf90ff3b1c22207186de21c73
https://hdl.handle.net/11370/9a5c1c22-53cd-4a41-b508-69303bc1a502
Zobrazit plný text záznamu
6
A Database to Support the Interpretation of Human Mismatch Repair Gene Variants
Autor: Renee C. Niessen, Jianghua Ou, Jan J. Vonk, Helga Westers, Robert M.W. Hofstra, Rolf H. Sijmons
Publikováno v: Human Mutation, 29(11), 1337-1341. Wiley
Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominantly-inherited disorder predominantly char
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a6707f9245b08b4ad915282b3917f3
https://hdl.handle.net/11370/4f3f3822-339c-49e1-bc50-d1d73d3b9fd7
Zobrazit plný text záznamu
7
Drosophila Vps13 Is Required for Protein Homeostasis in the Brain
Autor: Nicola A. Grzeschik, Sven C.D. van IJzendoorn, Francesco Pinto, Liza L. Lahaye, Bart Kanon, Jan J. Vonk, Marianne van der Zwaag, Ody C. M. Sibon, Anita I. E. Faber, Raimundo Freire, Wondwossen M Yeshaw, Antonio Velayos-Baeza
Publikováno v: PLoS ONE, 12(1):e0170106. PUBLIC LIBRARY SCIENCE
PLoS ONE, Vol 12, Iss 1, p e0170106 (2017)
PLoS ONE
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a4a19457a72179e249550afaf9138f
https://doi.org/10.1371/journal.pone.0170106
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje