Results 31 to 40 of about 1,572 (180)

The PanK2 Genes of Mouse and Human Specify Proteins with Distinct Subcellular Locations [PDF]

, 2007
Coenzyme A (CoA) biosynthesis is initiated by pantothenate kinase (PanK) and CoA levels are controlled through differential expression and feedback regulation of PanK isoforms. PanK2 is a mitochondrial protein in humans, but comparative genomics revealed that acquisition of a mitochondrial targeting signal was limited to primates. Human and mouse PanK2
Leonardi, Roberta, Zhang, Yong-Mei, Lydikis, Athanasios, Stevens, Robert D., Ilkayeva, Olga R., Wenner, Brett R., Bain, James R., Newgard, Christopher B., Rock, Charles O., Jackowski, Suzanne   +9 more
openaire   +2 more sources

Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration

SAGE Open Medical Case Reports, 2017
Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases.
George P Paraskevas, Christos Yapijakis, Anastasia Bougea, Vasilios Constantinides, Mara Bourbouli, Eleftherios Stamboulis, Elisabeth Kapaki   +6 more
doaj   +4 more sources

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

Biomolecules, 2022
Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene and associated with iron deposition in basal ganglia.
Maike Werning, Verena Dobretzberger, Martin Brenner, Ernst W. Müllner, Georg Mlynek, Kristina Djinovic-Carugo, David M. Baron, Lena Fragner, Almut T. Bischoff, Boriana Büchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer   +12 more
doaj   +1 more source

Rare <i>PANK2</i> variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic. [PDF]

Brain Commun
Abstract Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare, autosomal recessive neurological disorder characterized by the progressive degeneration of specific regions in the brain and is invariably fatal. Several individuals in families affected by PKAN were known to live in an isolated region in a southwestern province ...
Vardarajan BN, Roa PS, Kim CY, Stoeter P, Rivera Mejia D, Houck A, Chan A, Reyes-Dumeyer D, Piriz A, Fee R, Blanco-Abinader F, Roedan FA, Rice E, Christenson S, Chiu R, Gunasekaran TI, Lantigua RA, Dalgard C, Przedborski S, Mayeux R.   +19 more
europepmc   +3 more sources

Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene

Stem Cell Research, 2021
Neurodegeneration with brain iron accumulation (NBIA) is a genetically and phenotypically heterogeneous group of inherited neurodegenerative disorder characterized by basal ganglia iron deposition.
Chih-Hsin Ou-Yang, Chun-Hwei Tai, Han-Yi Lin, Cheng-Yen Huang, Chin-Hsien Lin   +4 more
doaj   +1 more source

Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism

Nature Communications, 2022
PKAN and PD are two distinct diseases with overlapping pathophysiology. Here, authors show that their pathogenic genes PANK2 and PINK1 interact. PANK2 regulates mitophagy via CoA metabolism, while PINK1 supervises PANK2 translation on mitochondria.
Yunpeng Huang, Zhihui Wan, Yinglu Tang, Junxuan Xu, Bretton Laboret, Sree Nallamothu, Chenyu Yang, Boxiang Liu, Rongze Olivia Lu, Bingwei Lu, Juan Feng, Jing Cao, Susan Hayflick, Zhihao Wu, Bing Zhou   +14 more
doaj   +1 more source

Characterization of the human PANK2 promoter [PDF]

Gene, 2010
Pantothenate kinase 2 (PANK2) is an essential regulatory enzyme in coenzyme A biosynthesis. PANK2 mutations cause pantothenate kinase-associated neurodegeneration (PKAN), which leads to pigmentary retinopathy, progressive dystonia and other abnormalities.
Brenda J, Polster, Moon Y, Yoon, Susan J, Hayflick   +2 more
openaire   +2 more sources

Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration

Brain Sciences, 2021
Coenzyme A (CoA) is an essential cofactor in all living organisms. It is involved in a large number of biochemical processes functioning either as an activator of molecules with carbonyl groups or as a carrier of acyl moieties.
Luca Mignani, Barbara Gnutti, Daniela Zizioli, Dario Finazzi   +3 more
doaj   +1 more source

Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients [PDF]

Archives of Biological Sciences, 2019
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2
Svetel Marina, Hartig Monika, Cvetković Dragana, Beaubois Cyrielle, Maksić Jasmina, Novaković Ivana, Krajinović Maja, Kostić Vladimir   +7 more
doaj   +1 more source

Compartmentalization of mammalian pantothenate kinases. [PDF]

PLoS ONE, 2012
The pantothenate kinases (PanK) catalyze the first and the rate-limiting step in coenzyme A (CoA) biosynthesis and regulate the amount of CoA in tissues by differential isoform expression and allosteric interaction with metabolic ligands.
Adolfo Alfonso-Pecchio, Matthew Garcia, Roberta Leonardi, Suzanne Jackowski   +3 more
doaj   +1 more source