نتایج جستجو برای: pank2

تعداد نتایج: 105  

2015
Brenda Jo Polster

Regulation and expression of genes associated with neurodegeneration with brain iron accumulation" (2010). Appendix A: Additional PLA2G6 in situ hybridization images 166 iii LIST OF FIGURES Figure 1.1 Sub-classification of neurodegeneration with brain iron 3 accumulation (NBIA) Figure 1.2 Radiographic features of PKAN and INAD 6 Figure 1.3 PANK2 geonomic structure and mRNA transcripts 9 Figure ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2007
Roberta Leonardi Charles O Rock Suzanne Jackowski Yong-Mei Zhang

The human isoform 2 of pantothenate kinase (PanK2) is localized to the mitochondria, and mutations in this protein are associated with a progressive neurodegenerative disorder. PanK2 inhibition by acetyl-CoA is so stringent (IC50 < 1 microM) that it is unclear how the enzyme functions in the presence of intracellular CoA concentrations. Palmitoylcarnitine was discovered to be a potent activator...

Journal: :Human molecular genetics 2009
Zhihao Wu Chenghua Li Shan Lv Bing Zhou

Pantothenate-Kinase-Associated-Neurodegeneration (PKAN) is a devastating disease, resulting from mutations in pantothenate kinase 2 (PANK2), one of the four human pantothenate kinase genes (PANK1-4). Interestingly, PanK2 appears to be the only mitochondria-targeted human PanK. It is unknown whether the mitochondria-targeted PanK is associated with any unique function, nor whether PKAN is due so...

2012
Mitra Ansari Dezfouli Elham Jaberi Afagh Alavi Mohammad Rezvani Gholamali Shahidi Elahe Elahi Mohammad Rohani

BACKGROUND Pantothenate kinase associated neurodegeneration (PKAN) is the most prevalent type of neurodegeneration with brain iron accumulation (NBIA) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on T2 brain magnetic resonance imaging (MRI) characterized by hypointensity in globus pallidus and a hyperintensity in its core. All PKAN patients have homozygous or compound...

Journal: :The New England journal of medicine 2003
Susan J Hayflick Shawn K Westaway Barbara Levinson Bing Zhou Monique A Johnson Katherine H L Ching Jane Gitschier

BACKGROUND Hallervorden-Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase-associated neurodegeneration. In this study, we compared the clinical and radiographic features...

2016
Daniela Zizioli Natascia Tiso Adele Guglielmi Claudia Saraceno Giorgia Busolin Roberta Giuliani Deepak Khatri Eugenio Monti Giuseppe Borsani Francesco Argenton Dario Finazzi

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. The molecular connection between defects in this enzyme and the neurodegenerative phenotype observed in PKAN patients is still poorly understood. We exploited the zebrafish model to st...

2005
Paul T. Kotzbauer Adam C. Truax John Q. Trojanowski

Mutations in the pantothenate kinase 2 (PANK2) gene have been identified in patients with neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden–Spatz disease). However, the mechanisms by which these mutations cause neurodegeneration are unclear, especially given the existence of multiple pantothenate kinase genes in humans and multiple PanK2 transcripts with potentially di...

2012
Dario Brunetti Sabrina Dusi Michela Morbin Andrea Uggetti Fabio Moda Ilaria D'Amato Carla Giordano Giulia d'Amati Anna Cozzi Sonia Levi Susan Hayflick Valeria Tiranti

Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence of axonal spheroids. Mutations in the PANK2 gene, which encodes pantothenate kinase 2, underlie an autosomal recessive inborn error of coenzyme A metabolism, called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is charact...

2012
Adolfo Alfonso-Pecchio Matthew Garcia Roberta Leonardi Suzanne Jackowski

The pantothenate kinases (PanK) catalyze the first and the rate-limiting step in coenzyme A (CoA) biosynthesis and regulate the amount of CoA in tissues by differential isoform expression and allosteric interaction with metabolic ligands. The four human and mouse PanK proteins share a homologous carboxy-terminal catalytic domain, but differ in their amino-termini. These unique termini direct th...

2016
Sunil Gothwal Swati Nayan

Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of diffe...

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