Results 31 to 40 of about 6,825 (177)

Redesigning therapies for pantothenate kinase-associated neurodegeneration. [PDF]

J Biol Chem, 2022
Pantothenate kinase-associated neurodegeneration (PKAN) is an incurable rare genetic disorder of children and young adults caused by mutations in the PANK2 gene, which encodes an enzyme critical for the biosynthesis of coenzyme A. Although PKAN affects only a small number of patients, it shares several hallmarks of more common neurodegenerative ...
Munshi MI, Yao SJ, Ben Mamoun C.
europepmc   +4 more sources

Pantothenate kinase-associated neurodegeneration [PDF]

Neurosciences, 2017
9-years-old girl, previously healthy, presented with progressive dystonia. Clinically, she have dysarthria and spastic gait. Her parents are first-degree cousins. She have a paternal cousins who have a similar symptoms started 3 years ago, currently he is bed ridden.
Khalid, Hundallah, Afnan, Al Hakeem
openaire   +3 more sources

Pathology and treatment methods in pantothenate kinase-associated neurodegeneration [PDF]

Advances in Psychiatry and Neurology
Robert Kwinta, Katarzyna Kopcik, Agnieszka Koberling   +2 more
doaj   +2 more sources

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

Orphanet Journal of Rare Diseases, 2021
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 spasticity, dystonia, muscle rigidity,
Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Joaquín J. Salas, José A. Sánchez-Alcázar   +8 more
doaj   +1 more source

Retinitis pigmentosa in pantothenate kinase-associated neurodegeneration [PDF]

Arquivos de Neuro-Psiquiatria, 2014
José Luiz Pedroso, Priscilla Proveti, Luiz Fernando Teixeira, Juliana Maria Ferraz Sallum, Orlando G. P. Barsottini   +4 more
doaj   +3 more sources

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

Frontiers in Neurology, 2023
The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN).
Siqi Dong, Siqi Dong, Ya Tuo, Zihan Qi, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Xiaoni Liu, Ping Huang, Xiangjun Chen, Xiangjun Chen, Xiangjun Chen   +11 more
doaj   +1 more source

Physiological roles of the pantothenate kinases [PDF]

Biochemical Society Transactions, 2014
CoA (coenzyme A) is an essential cofactor that is involved in many metabolic processes. CoA is derived from pantothenate in five biosynthetic reactions. The CoA biosynthetic pathway is regulated by PanKs (pantothenate kinases) and four active isoforms are expressed in mammals. The critical physiological functions of the PanKs are revealed by systematic
Lorraine E, Dansie, Stacy, Reeves, Karen, Miller, Stephen P, Zano, Matthew, Frank, Caroline, Pate, Jina, Wang, Suzanne, Jackowski   +7 more
openaire   +2 more sources

Allosteric Regulation of Mammalian Pantothenate Kinase [PDF]

Journal of Biological Chemistry, 2016
Pantothenate kinase is the master regulator of CoA biosynthesis and is feedback-inhibited by acetyl-CoA. Comparison of the human PANK3·acetyl-CoA complex to the structures of PANK3 in four catalytically relevant complexes, 5'-adenylyl-β,γ-imidodiphosphate (AMPPNP)·Mg2+, AMPPNP·Mg2+·pantothenate, ADP·Mg2+·phosphopantothenate, and AMP phosphoramidate ...
Chitra, Subramanian, Mi-Kyung, Yun, Jiangwei, Yao, Lalit Kumar, Sharma, Richard E, Lee, Stephen W, White, Suzanne, Jackowski, Charles O, Rock   +7 more
openaire   +2 more sources

Discovery of Sulfonamide Pantothenate Kinase Activators and Elucidation of the Role of Isoform Selectivity in Cellular Pantothenate Kinase Activation. [PDF]

J Med Chem
Coker AL, Tangallapally R, Yun MK, Subramanian C, Jayasinghe T, Miller K, Edwards A, Frank M, Jackowski S, Rock CO, White SW, Lee RE.   +11 more
europepmc   +3 more sources

Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration

, 2020
BACKGROUND: Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration,
Habibi, S. A. H., Saeedi, Y., Fasano, A., Chitsaz, Ahmad, Kazemi, F., Lang, A. E., Rohani, M., Tafakhori, A.   +7 more
core   +2 more sources