Results 41 to 50 of about 1,671 (156)

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

Frontiers in Neurology, 2023
The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN).
Siqi Dong, Siqi Dong, Ya Tuo, Zihan Qi, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Xiaoni Liu, Ping Huang, Xiangjun Chen, Xiangjun Chen, Xiangjun Chen   +11 more
doaj   +1 more source

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds. [PDF]

Int J Mol Sci, 2020
Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase-associated neurodegeneration (PKAN), the most common form of neurodegeneration with brain iron accumulation.
Ceccatelli Berti C, Gilea AI, De Gregorio MA, Goffrini P.   +3 more
europepmc   +2 more sources

Tremor-Dominant Pantothenate Kinase-associated Neurodegeneration. [PDF]

Mov Disord Clin Pract, 2017
AbstractView Supplementary Video1View Supplementary Video2View Supplementary Video3Neurodegeneration with brain iron accumulation (NBIA) includes a rare and heterogeneous group of disorders characterized by iron deposition in the basal ganglia. Pantothenate kinase‐associated neurodegeneration (PKAN) is the most common NBIA and has 2 main presentations:
Rohani M, Shahidi G, Alavi A, Lang AE, Yousefi N, Razme S, Fasano A.   +6 more
europepmc   +4 more sources

Proton magnetic resonance spectroscopy detects cerebral metabolic derangement in a mouse model of brain coenzyme a deficiency

Journal of Translational Medicine, 2022
Background Pantothenate kinase (PANK) is the first and rate-controlling enzymatic step in the only pathway for cellular coenzyme A (CoA) biosynthesis. PANK-associated neurodegeneration (PKAN), formerly known as Hallervorden–Spatz disease, is a rare, life-
Yanan Li, Jeffrey Steinberg, Zane Coleman, Shubo Wang, Chitra Subramanian, Yimei Li, Zoltan Patay, Walter Akers, Charles O. Rock, Suzanne Jackowski, Puneet Bagga   +10 more
doaj   +1 more source

Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories.

, 2016
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Arber, C, Houlden, H, H. Houlden, C. E. Arber, S. Wray, Wray, S, A. Li, Li, A   +7 more
core   +1 more source

Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2020
Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13.
Svetel Marina, Novaković Ivana, Tomić Svetlana, Kresojević Nikola, Kostić Vladimir   +4 more
doaj   +1 more source

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. [PDF]

PLoS ONE, 2015
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2).
Jasmin Schiessl-Weyer, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer   +9 more
doaj   +1 more source

Long‐Term Outcomes of Deep Brain Stimulation in Woodhouse–Sakati Syndrome

Movement Disorders, EarlyView.
Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with distinctive neuroendocrine manifestations, with dystonia being the most common. No clear guidelines are available for the treatment of dystonia in WSS. Objective The aim was to analyze the impact of deep brain stimulation (DBS) on WSS‐associated dystonia ...
Hend Alhodaif, Yara Alkhodair, Faisal Alotaibi, Salma Alqahtani, Saeed Bohlega, Amaal Aldakheel   +5 more
wiley   +1 more source

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

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   +1 more source

Neuroprotective Effects of Biosynthetic d‐Calcium Pantothenate and Cyanocobalamin Against MPTP‐Induced Parkinsonism via Microbiota Modulation, Metabolic Homeostasis Restoration, and Endoplasmic Reticulum Stress Inhibition

Food Frontiers, Volume 7, Issue 4, July 2026.
Biosynthetic D‐calcium pantothenate and cyanocobalamin alleviate MPTP‐induced Parkinsonism in mice by modulating gut microbiota, restoring metabolic homeostasis, and inhibiting Endoplasmic Reticulum Stress. ABSTRACT Vitamin B5 (VB5) and Vitamin B12 (VB12) are essential micronutrients widely distributed in functional foods, yet their neuroprotective ...
Yaru Chen, Shaohui Zhu, Yajie Ruan, Kaiqi Zheng, Jing Wang, Qianqian Guan, Tao Xiong   +6 more
wiley   +1 more source