Results 21 to 30 of about 1,572 (180)

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

Annals of Neurology, 2006
AbstractObjectiveNeurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2).MethodsWe completed a mutation screen in 72 ...
Hartig, Monika B., Hortnagel, K., Garavaglia, B., Zorzi, G., Kmiec, T., Klopstock, Thomas, Rostasy, Kevin, Svetel, M., Kostic, V. S., Schuelke, M., Botz, E., Weindl, A., Novakovic, I., Nardocci, N., Prokisch, Holger, Meitinger, Thomas   +15 more
core   +5 more sources

A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study [PDF]

Orphanet Journal of Rare Diseases
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,
Alessandra Pereira, Carolina Fischinger Moura de Souza, Mónica Álvarez-Córdoba, Diana Reche-López, José Antonio Sánchez-Alcázar   +4 more
doaj   +2 more sources

GPi-DBS for SERAC1-Related Dystonia-Parkinsonism. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 13, Issue 2, Page 568-571, February 2026.
Yahya V, Di Maio A, Treddenti M, Tundo L, Scacciatella G, Masetti C, Pengo M, Casellato C, Lattanzi D, Egidi M, Marceglia S, Bocci T, Priori A, Oggioni G.   +13 more
europepmc   +2 more sources

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India

Scientific Reports, 2017
Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms ...
Arshia Angural, Inderpal Singh, Ankit Mahajan, Pranav Pandoh, Manoj K Dhar, Sanjana Kaul, Vijeshwar Verma, Ekta Rai, Sushil Razdan, Kamal Kishore Pandita, Swarkar Sharma   +10 more
doaj   +2 more sources

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. [PDF]

PLoS ONE, 2017
Mutations in PANK2 lead to neurodegeneration with brain iron accumulation. PANK2 has a role in the biosynthesis of coenzyme A (CoA) from dietary vitamin B5, but the neuropathological mechanism and reasons for iron accumulation remain unknown.
Charles Arber, Plamena R Angelova, Sarah Wiethoff, Yugo Tsuchiya, Francesca Mazzacuva, Elisavet Preza, Kailash P Bhatia, Kevin Mills, Ivan Gout, Andrey Y Abramov, John Hardy, James A Duce, Henry Houlden, Selina Wray   +13 more
doaj   +2 more sources

Knock-down of pank2 in zebrafish and overexpression of human PANK2 in zebrafish: insight for PKAN pathogenesis

, 2017
PKAN is an autosomal recessive disorder with mutations in the PANK2 gene, encoding an essen- tial enzyme for CoA biosynthesis. The molecular connection between defects in this enzyme and the neurodegenerative phenotype observed in PKAN patients is still poorly understood.
Khatri, D., ZIZIOLI, DANIELA, TISO, NATASCIA, Vezzoli, S., GIANONCELLI, ALESSANDRA, Finazzi, D.   +5 more
openaire   +2 more sources

Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

EMBO Molecular Medicine, 2016
Pantothenate kinase‐associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available.
Daniel I Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena G Giannelli, Paola Venco, Pietro G Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi   +15 more
doaj   +2 more sources

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

Neurology International, 2019
Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20.
Amir Hasan Habibi, Saeed Razmeh, Omid Aryani, Mohammad Rohani, Laleh Taghavian, Elham Alizadeh, Karim Moradian Kokhedan, Maryam Zaribafian   +7 more
doaj   +3 more sources

Dyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report [PDF]

SAGE Open Medical Case Reports
Pantothenate kinase-associated neurodegeneration (PKAN, OMIM: 234200) results from biallelic pathogenic variants in PANK2 which encodes pantothenate kinase 2, a crucial mitochondrial enzyme involved in coenzyme A biosynthesis.
Henry-Marcelo Rodriguez-Perez, Olga-Berenice Reyes-Flores, Yazmin Quiñonez-Pacheco, Yahir-Arturo Centeno-Navarrete, Cruz Gonzalez-Vazquez, Felix-Julian Campos-Garcia   +5 more
doaj   +2 more sources

The down-regulation of pank2 gene in zebrafish as a model of Pantothenate Kinase Associated Neurodegeneration. [PDF]

, 2016
The increased iron deposition is a hallmark of many neurodegenerative diseases, but its pathogenic role is still unclear. A strong link between iron and neurodegeneration is evident in a set of heterogeneous neurological disorders, known as Neurodegeneration with Brain Iron Accumulation (NBIA).
TISO, NATASCIA, Zizioli, Daniela, BUSOLIN, GIORGIA, Khatri, Deepak, Giuliani, Roberta, Borsani, Giuseppe, Monti, Eugenio, ARGENTON, FRANCESCO, Finazzi, Dario   +8 more
openaire   +3 more sources