نتایج جستجو برای: pank2

تعداد نتایج: 105  

2017
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

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. In this study, atypical patient-derived fibroblasts were reprogrammed into induced pluripotent stem cells (iPSCs) and subsequently differentiated into cor...

Journal: :Human reproduction 2009
Chia-Huei Lee Chien-Chih Wu Yi-No Wu Han-Sun Chiang

BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is a distinct clinical entity accounting for approximately 25% of obstructive azoospermia in infertile men. The association between CBAVD and mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles is well demonstrated in Caucasians, but the identity of CBAVD-susceptibility genes remains elusive in Asians. We...

Journal: :Acta neurologica Belgica 2007
Frederik Clement David Devos Caroline Moreau Philippe Coubes Alain Destee Luc Defebvre

BACKGROUND Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options. CASE REPORTS In the first case, progressively generalizing dystonic symptoms appeared during childhood. A mutation in the gene encoding pantothenate kinase 2 (PANK2) was found. Brain MRI showed bilateral hypers...

2010
Maria Livia Fantini Giovanni Cossu Andrea Molari Monia Cabinio Ozlem Uyanik Roberto Cilia Maurizio Melis Angelo Antonini Luigi Ferini-Strambi

Pantothenate kinase-associated neurodegeneration (PKAN) is a familial or sporadic disease characterized by extrapyramidal and corticospinal signs with dementia. Patients show iron accumulation in the basal ganglia, with neuronal loss and gliosis. A mutation of pantothenate kinase (PANK2) gene localized on chromosome 20p13 has been described in familiar forms, as well as in sporadic patients. We...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2008
K Y Chan C W Lam L P Lee S F Tong Y P Yuen

Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense m...

Journal: :Veterinary pathology 2008
M Márquez A Serafin H Fernández-Bellon S Serrat A Ferrer-Admetlla J Bertranpetit I Ferrer M Pumarola

Pallido-nigral spheroids associated with iron deposition have been observed in some aged clinically normal nonhuman primates. In humans, similar findings are observed in neurodegeneration with brain iron accumulation diseases, which, in some cases, show associated mutations in pantothenate kinase 2 gene (PANK2). Here we present an aged gorilla, 40 years old, suffering during the last 2 years of...

2015
Ewa Golanska Agata Gajos Monika Sieruta Malgorzata Szybka Monika Rudzinska Stanislaw Ochudlo Tomasz Kmiec Pawel P. Liberski Andrzej Bogucki Pedro Gonzalez-Alegre

The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single nucleotide variations were identified. The coding substitutions were: c. 238A>G (p.Ile80Val), found in...

Journal: :Human molecular genetics 2012
Alessandro Campanella Daniela Privitera Michela Guaraldo Elisabetta Rovelli Chiara Barzaghi Barbara Garavaglia Paolo Santambrogio Anna Cozzi Sonia Levi

Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disease belonging to the group of neurodegeneration with brain iron accumulation disorders. It is characterized by progressive impairments in movement, speech and cognition. The disease is inherited in a recessive manner due to mutations in the Pantothenate Kinase-2 (PANK2) gene that encodes a mitochondrial protein i...

2017
George P Paraskevas Christos Yapijakis Anastasia Bougea Vasilios Constantinides Mara Bourbouli Eleftherios Stamboulis Elisabeth Kapaki

Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-kinase-associated neurodegeneration, confirmed by molecular analysis that revealed two trans-actin...

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