Results 61 to 70 of about 1,572 (180)

Pantothenate Kinase-Associated Neurodegeneration- Rare form of Neurodegeneration with Brain Iron Accumulation [PDF]

International Journal of Anatomy Radiology and Surgery, 2020
Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare autosomal recessive disorder is mainly caused by mutation in the PANK2 gene. PKAN is included in a group of disorders known as Neurodegeneration with Brain Iron Accumulation (NBIA ...
Anitha Kini, A Sowmya Chitra, GU Pravin
doaj   +1 more source

Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism

The FEBS Journal, Volume 293, Issue 12, Page 3565-3587, June 2026.
Computational modelling and in vitro liver cell experiments indicate that medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency causes an accumulation of (especially medium‐chain) acyl‐CoAs at the cost of free CoA (CoASH). A substantial decrease in CoASH impairs flux through many pathways essential for energy homeostasis.
Ligia Akemi Kiyuna, Christoff Odendaal, Madhulika Singh, Albert Gerding, Miriam Langelaar‐Makkinje, Marianne van der Zwaag, Asmara Drachman, Vladimíra Cetkovská, Gaby Liem Foeng Kioen, Anne‐Claire M. F. Martines, Nicolette C. A. Huijkman, Hein Schepers, Bart van de Sluis, Dirk‐Jan Reijngoud, Ody C. M. Sibon, Amy C. Harms, Thomas Hankemeier, Barbara M. Bakker   +17 more
wiley   +1 more source

Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration

Case Reports in Radiology, 2021
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2).
S. Choayb, H. Adil, Daoud Ali Mohamed, N. Allali, L. Chat, S. El Haddad   +5 more
doaj   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 1005-1019, May 2026.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Multi-level evidence reveals PANK2 as a potential target of PFOA/PFOS-induced bone metabolism disruption: From network toxicology to in vitro validation

Ecotoxicology and Environmental Safety
Perfluorooctanoic acid (PFOA) and perfluorooctanesulfonic acid (PFOS) are two representative per- and polyfluoroalkyl substances (PFAS) that have attracted increasing attention due to their environmental persistence and potential health risks, while ...
Yiming Shao, Wenhao Fan
doaj   +1 more source

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

EBioMedicine, 2022
Summary: Background: Neurodegeneration with brain iron accumulation (NBIA) are a group of clinically and genetically heterogeneous diseases characterized by iron overload in basal ganglia and progressive neurodegeneration.
Hana Kolarova, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock   +5 more
doaj   +1 more source

When Pathways Converge: Iron, Lipid Peroxidation, and α‐Synuclein in Ferroptosis‐Driven Dopaminergic Neurodegeneration

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
Dopaminergic neurons are particularly susceptible to ferroptosis. Pacemaking activity–driven calcium (Ca2+) influx increases metabolic demand and reactive oxygen species (ROS) production, promoting iron release from aconitase. Alpha‐synuclein (α‐syn) enhances iron uptake via transferrin receptor 1 (TfR1) and exhibits ferrireductase activity, converting
Carmem L. Sperlich, Brent R. Stockwell, Marcelo Farina   +2 more
wiley   +1 more source

7‐Tesla magnetic resonance imaging for brain iron quantification in homozygous and heterozygous PANK2 mutation carriers

, 2014
Pantothenate‐kinase–associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron deposits in basal ganglia. The aim of this study was to quantify iron concentrations of deep gray matter structures in heterozygous PANK2 ...
Paul, F., Niendorf, T., Vince Istvan Madai, Wuerfel, Jens, Dusek, P., Dusek, Petr, Paul, Friedemann, Schneider, S.A., Tovar Martinez, E.M., Sobesky, J., Thoralf Niendorf, Schneider, Susanne A., Petr Dusek, Tovar Martinez, Elena Maria, Jech, Robert, Friedemann Paul, Niendorf, Thoralf, Elena Maria Tovar Martinez, Madai, V.I., Wuerfel, J., Jens Wuerfel, Sobesky, Jan, Madai, Vince Istvan, Jan Sobesky, Susanne A. Schneider, Jech, R., Robert Jech   +26 more
core   +1 more source

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT COASY protein associated neurodegeneration is a rare, progressive autosomal recessive neuroferritinopathy due to pathogenic mutations in the COASY gene, coding for the mitochondrial located coenzyme A synthase. Clinical manifestations include seizures, progressive spasticity, dystonia, neuropathy, cognitive decline and neuropsychiatric ...
Matthew Lynch, Sophie Manoy, Claire Murray, Geoff Wallace, Nolette Pereira, Ricky Price, Anita Inwood, Jim McGill, David Coman   +8 more
wiley   +1 more source

Dramatic Improvement in Juvenile Parkinsonism after Levodopa Treatment in a Patient Negative for the PANK2 Mutation [PDF]

Pediatrics & Neonatology, 2016
Juvenile parkinsonism is a rare movement disorder. In pediatric patients, the manifestations are more complex and varied, which makes the diagnosis challenging. It may occasionally manifest as another disease such as dopa-responsive dystonia, Wilson disease, or neurodegeneration with brain iron accumulation (i.e., HallervordeneSpatz disease).
Syuan-Yu Hong, Inn-Chi Lee
openaire   +3 more sources