CoA‐dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases

Autor: Roald A Lambrechts, Hein Schepers, Yi Yu, Marianne van der Zwaag, Kaija J Autio, Marcel A Vieira‐Lara, Barbara M Bakker, Marina A Tijssen, Susan J Hayflick, Nicola A Grzeschik, Ody CM Sibon

Publikováno v: EMBO Molecular Medicine, Vol 11, Iss 12, Pp 1-21 (2019)

Abstract PKAN, CoPAN, MePAN, and PDH‐E2 deficiency share key phenotypic features but harbor defects in distinct metabolic processes. Selective damage to the globus pallidus occurs in these genetic neurodegenerative diseases, which arise from defect

Externí odkaz: https://doaj.org/article/d8554242c8ae4af6849ce730ce21786d

Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives

Autor: Alejandra Suárez-Carrillo, Suleva Povea-Cabello, Marta Talaverón-Rey, Juan M. Suárez-Rivero, José Antonio Sánchez-Alcázar, Irene Villalón-García, Joaquín J. Salas, Manuel Munuera-Cabeza, Mónica Álvarez-Córdoba

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
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Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)

16 Páginas.-- 7 Figuras
Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive sp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8c800c9b10fde1200ec50db9c5bcbd
http://europepmc.org/articles/PMC8101147

CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases

Autor: Barbara M. Bakker, Kaija J. Autio, Susan J. Hayflick, Nicola A. Grzeschik, Marianne van der Zwaag, Yi Yu, Marina A. J. Tijssen, Hein Schepers, Roald A. Lambrechts, Ody C. M. Sibon, Marcel A. Vieira-Lara

Publikováno v: EMBO Molecular Medicine. Wiley
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 11, Iss 12, Pp n/a-n/a (2019)

PKAN, CoPAN, MePAN, and PDH‐E2 deficiency share key phenotypic features but harbor defects in distinct metabolic processes. Selective damage to the globus pallidus occurs in these genetic neurodegenerative diseases, which arise from defects in CoA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3574b44d433217f81f982f602fce1f28
https://research.rug.nl/en/publications/1bc8c5d5-b8d0-4d70-8ba5-923d8a98267b

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