Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. [PDF]
PLoS ONEPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive movement and vision disorder in the neurodegeneration with brain iron accumulation family of diseases. PKAN is caused by mutations in PANK2, encoding pantothenate kinase 2,
Grace Li-Na Su +6 more
doaj +2 more sources
A novel heteromeric pantothenate kinase complex in apicomplexan parasites. [PDF]
PLoS Pathogens, 2021 Coenzyme A is synthesised from pantothenate via five enzyme-mediated steps. The first step is catalysed by pantothenate kinase (PanK). All PanKs characterised to date form homodimers. Many organisms express multiple PanKs.
Erick T Tjhin +4 more
doaj +2 more sources
Pantothenate kinase 4 controls skeletal muscle substrate metabolism [PDF]
Nature CommunicationsMetabolic flexibility in skeletal muscle is essential for maintaining healthy glucose and lipid metabolism, and its dysfunction is closely linked to metabolic diseases.
Adriana Miranda-Cervantes +32 more
doaj +2 more sources
Pantothenate Kinase Associated Neurodegeneration in Two Brothers
Acta Médica Portuguesa, 2015 Keywords: Neurodegenerative Diseases; Phosphotransferases (Alcohol Group Acceptor); Siblings.
Bruno Niemeyer de Freitas Ribeiro +3 more
doaj +4 more sources
Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation [PDF]
Frontiers in Human NeurosciencePantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene.
Guo Hong +11 more
doaj +2 more sources
Pantothenate kinase and control of CoA synthesis in heart
American Journal of Physiology-Heart and Circulatory Physiology, 1984 Control of coenzyme A (CoA) synthesis was studied in isolated perfused rat hearts. The data obtained support the hypothesis that phosphorylation of pantothenic acid by pantothenate kinase is the flux-generating reaction in the pathway of CoA synthesis.
J D, Robishaw, J R, Neely
openaire +3 more sources
Pallidal stimulation improves pantothenate kinase–associated neurodegeneration
Annals of Neurology, 2005 AbstractPantothenate kinase–associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN who obtained a major and long‐lasting improvement of their painful spasms, dystonia, and ...
Castelnau P +7 more
openaire +6 more sources
A therapeutic approach to pantothenate kinase associated neurodegeneration [PDF]
Nature Communications, 2018 Mutations in pantotenate kinase (PANK) cause neurodegneration. Here the authors carry out achemical screen and identify a PANK activator that is orally available, crosses the blood brain barrierand show that it effecttive in improving pathology and life ...
Lalit Kumar Sharma +7 more
doaj +3 more sources
Pantothenate Kinase-associated Neurodegeneration with Dysarthria
Indian Journal of Physical Medicine & RehabilitationPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disease with brain iron accumulation (NBIA), caused by mutation in the PANK2 gene. Patients can have classic or atypical presentations.
Rabia Uddin, Suman Badhal, Annie Mathew
doaj +2 more sources
Pantothenate Kinase-Associated Neurodegeneration [PDF]
Current Drug Targets, 2012 Pantothenate kinase-associated neurodegeneration (PKAN) is a hereditary progressive disorder and the most frequent form of neurodegeneration with brain iron accumulation (NBIA). PKAN patients present with a progressive movement disorder, dysarthria, cognitive impairment and retinitis pigmentosa.
Monika B. Hartig +3 more
+7 more sources