Results 51 to 60 of about 1,572 (180)
Deficiency of pantothenate kinase 2 ( Pank2 ) in mice leads to retinal degeneration and azoospermia [PDF]
Human Molecular Genetics, 2004 Pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome) is a rare but devastating neurodegenerative disorder, resulting from an inherited defect in coenzyme A biosynthesis. As pathology in the human condition is limited to the central nervous system, specifically the retina and globus pallidus, we have ...
Yien-Ming, Kuo +7 more
openaire +2 more sources
, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2
Huan-Cheng Xie (12357649) +11 more
core +1 more source
, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2
Huan-Cheng Xie (12357649) +11 more
core +1 more source
Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration [PDF]
Journal of Movement Disorders, 2009 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings.
Sung-Hyouk Kim +6 more
doaj +1 more source
, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2
Huan-Cheng Xie (12357649) +11 more
core +1 more source
PLoS ONE, 2012 Pantothenate kinase (PanK) phosphorylates pantothenic acid (vitamin B(5)) and controls the overall rate of coenzyme A (CoA) biosynthesis. Pank1 gene deletion in mice results in a metabolic phenotype where fatty acid oxidation and gluconeogenesis are ...
Matthew Garcia +4 more
doaj +1 more source
, 2022 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2
Huan-Cheng Xie (12357649) +11 more
core +1 more source
Characteristics of the Pank2 knockout mouse.
, 2013 (A) Total PanK activity (pmoles/min) was determined in liver (•, ▪) and brain (○, □) homogenates from adult wild-type (WT,• and ○; n = 3–4) or Pank2(−/−) single knockout (▪ and □; n = 3–4) mice as a function of protein concentration. (B) Total CoA levels
Roberta Leonardi (119492) +4 more
core +1 more source
Movement Disorders, EarlyView.Abstract Background Relatively little is known about voice and speech abnormalities and their changes after deep brain stimulation (DBS) in patients with dystonia. Objective The aim was to determine the incidence of speech abnormalities, including laryngeal dystonia, among patients with dystonia receiving DBS and to characterize their response to this ...
Ian O. Bledsoe +7 more
wiley +1 more source
, 2015 A) Pank3 dimer structure (PDB ID 2i7P) is shown in blue (chain A) and yellow (chain B), respectively. B) The magnification reveals a polar interaction (dashed line) in the WT Pank3 between Y27 (magenta, corresponding to Y227 in Pank2) and R49 (green ...
Claudia Siegl (466174) +9 more
core +1 more source