Results 81 to 90 of about 1,518 (174)
Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease [PDF]
, 2015 Pantothenate Kinase Associated Neurodegeneration (PKAN) is an autosomal recessive disorder with mutations in the pantothenate kinase 2 gene (PANK2), encoding an essential enzyme for Coenzyme A (CoA) biosynthesis.
Borsani, Giuseppe +10 more
core +1 more source
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration [PDF]
, 2020 Background: Pantothenate kinase-associated neurodegeneration (PKAN) currently has no approved treatments. Objectives: The Fosmetpantotenate Replacement Therapy pivotal trial examined whether treatment with fosmetpantotenate improves PKAN symptoms and ...
Marta Correa‐Vela +63 more
core +1 more source
Aging Cell, Volume 24, Issue 6, June 2025.Proteostasis enhancing treatments are potential therapies for many age‐related diseases. We discovered that interference with the CoA biosynthesis pathway and limiting iron‐sulfur cluster availability improve proteostasis in C. elegans. Proteostasis improvement under these conditions depends on the conserved HLH‐30/TFEB transcription factor, which ...
Rewayd Shalash +11 more
wiley +1 more source
Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
Case Reports in Radiology, 2014 We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging.
Peter Johnson +3 more
doaj +1 more source
Movement Disorders, Volume 40, Issue 5, Page 938-949, May 2025.Abstract Background Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve ...
Nina‐Maria Wilpert +21 more
wiley +1 more source
Microbial Biotechnology, Volume 18, Issue 3, March 2025.The functional type VI secretion system of Sinorhizobium fredii USDA257 is required for successful nodulation with Glycine max cv Pekin. ABSTRACT The symbiotic relationship between rhizobia and legumes is critical for sustainable agriculture and has important economic and environmental implications.
Pedro José Reyes‐Pérez +8 more
wiley +1 more source
Anaesthetic management of a child with panthothenate kinase-associated neurodegeneration
Indian Journal of Anaesthesia, 2015 Panthothenate kinase-associated neurodegeneration (PKAN) (Hallervorden-Spatz disease) is a rare autosomal recessive chromosomal disorder characterised by progressive neuroaxonal dystrophy.
Renu Sinha +2 more
doaj +1 more source
Chorein deficiency promotes ferroptosis
FEBS Open Bio, Volume 15, Issue 1, Page 58-68, January 2025.Ferroptosis may contribute to cell death in chorea‐acanthocytosis caused by chorein deficiency. Chorein is suggested to interact with XK protein and be involved in lipid movement within cell membranes. Chorein deficiency can lead to iron accumulation and reactive oxygen species (ROS), causing lipid peroxidation and cell death.
Yoshiaki Nishizawa +10 more
wiley +1 more source
, 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) +6 more
core +1 more source
Microbial Cell, 2015 Mutations in nuclear genes associated with defective coenzyme A biosynthesis have been identified as responsible for some forms of neurodegeneration with brain iron accumulation (NBIA), namely PKAN and CoPAN.
Camilla Ceccatelli Berti +6 more
doaj +1 more source