Results 91 to 100 of about 1,518 (174)

A yeast model for PKAN and CoPAN neurodegeration

, 2018
Coenzyme A (CoA) is a key molecule involved in several metabolic processes such as tricarboxylic acid cycle, fatty acid metabolism, amino acid biosynthesis, and histone and non-histone protein acetylation.
Paola Goffrini, Camilla Ceccatelli Berti
core  

Image_1_PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation.JPEG

, 2022
PKAN disease is caused by mutations in the PANK2 gene, encoding the mitochondrial enzyme pantothenate kinase 2, catalyzing the first and key reaction in Coenzyme A (CoA) biosynthetic process.
Ivano Di Meo (12880082), Sonia Levi (698442), Anna Cozzi (12880079), Valeria Tiranti (263539), Gabriella Racchetti (6019739), Paolo Santambrogio (494681), Maddalena Ripamonti (12880076)   +6 more
core   +1 more source

Table_2_Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review.XLSX

, 2023
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy.
Yilun Tao (11429791), Wenxia Song (480265), Wenxia Song, Xiaoze Li (456068), Dong Han, Lihong Wang (14991), Yiju Wei, Chen Zhao, Lihong Wang, Dong Han (199240), Yiju Wei (11429794), Yilun Tao, Chen Zhao (225070), Xiaoze Li   +13 more
core   +1 more source

Neurodegeneration with Brain Iron Accumulation PANK2 and PLA2G6 Related Disorders

Arcades of Medicine
: Background Neurodegeneration with Brain Iron Accumulation (NBIA) disorders are rare inherited conditions characterized by progressive motor and cognitive decline due to iron deposition in the basal ganglia and cerebellum.
Mohamed Ayad, Nagwa Gaboon, Mohamed El-Sayed, Maha Zaki   +3 more
doaj   +1 more source

A new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesis.

Frontiers in Cellular Neuroscience, 2013
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a neurodegenerative disorder with a poorly understood molecular mechanism. It is caused by mutations in Pantothenate Kinase, the first enzyme in the Coenzyme A (CoA) biosynthetic pathway.
Varun ePandey, Hagit eTurm, Uriya eBekenstein, Sagiv eShifman, Sebastian eKadener   +4 more
doaj   +1 more source

Mapping of the PKAN-linked Pank2 Y227C mutation onto the Pank3 structure und partial alignment of human Pank proteins.

, 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), Alexander Tichy (487843), Franco Laccone (730656), Rainer Prohaska (466182), Jasmin Schiessl-Weyer (730654), Ulrich Salzer (194990), Peter Stoeter (730659), Pedro Roa (730655), Britta Kluge (730657), Euripedes De Almeida Ribeiro (730658)   +9 more
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Alterations of red cell membrane properties in neuroacanthocytosis.

PLoS ONE, 2013
Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainly ...
Claudia Siegl, Patricia Hamminger, Herbert Jank, Uwe Ahting, Benedikt Bader, Adrian Danek, Allison Gregory, Monika Hartig, Susan Hayflick, Andreas Hermann, Holger Prokisch, Esther M Sammler, Zuhal Yapici, Rainer Prohaska, Ulrich Salzer   +14 more
doaj   +1 more source

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report

Dementia & Neuropsychologia
The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric ...
Raquel Quimas Molina da Costa, Rogério Paysano Marrocos, Marco Antonio Araujo Leite, Fabio Henrique Gobbi Porto   +3 more
doaj   +1 more source

Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice.

PLoS ONE, 2015
BackgroundPantothenate kinase-associated neurodegeneration, PKAN, is an inherited disorder characterized by progressive impairment in motor coordination and caused by mutations in PANK2, a human gene that encodes one of four pantothenate kinase (PanK ...
Stephanie A Shumar, Paolo Fagone, Adolfo Alfonso-Pecchio, John T Gray, Jerold E Rehg, Suzanne Jackowski, Roberta Leonardi   +6 more
doaj   +1 more source

Differences in LPA-induced PS exposure and calcium uptake in erythrocytes of neuroacanthocytosis patients.

, 2013
Erythrocytes from ChAc, PKAN+ and PKAN- patients and control donors were treated with LPA as described in Materials and Methods and stained for PS exposure with FITC-annexin V (upper panels) or calcium uptake with Fluo-3 (lower panels) and analysed by ...
Holger Prokisch (26590), Andreas Hermann (159135), Esther M. Sammler (466180), Rainer Prohaska (466182), Benedikt Bader (184560), Monika Hartig (466178), Claudia Siegl (466174), Patricia Hamminger (466175), Allison Gregory (466177), Zuhal Yapici (466181), Adrian Danek (4947), Uwe Ahting (66296), Ulrich Salzer (194990), Herbert Jank (466176), Susan Hayflick (466179)   +14 more
core   +1 more source