نتایج جستجو برای: pantothenate kinase

تعداد نتایج: 227686  

2015
Stephanie A. Shumar Paolo Fagone Adolfo Alfonso-Pecchio John T. Gray Jerold E. Rehg Suzanne Jackowski Roberta Leonardi Philipp J. Kahle

BACKGROUND Pantothenate kinase-associated neurodegeneration, PKAN, is an inherited disorder characterized by progressive impairment in motor coordination and caused by mutations in PANK2, a human gene that encodes one of four pantothenate kinase (PanK) isoforms. PanK initiates the synthesis of coenzyme A (CoA), an essential cofactor that plays a key role in energy metabolism and lipid synthesis...

Journal: :Genetics 2001
K Afshar P Gönczy S DiNardo S A Wasserman

A number of fundamental processes comprise the cell division cycle, including spindle formation, chromosome segregation, and cytokinesis. Our current understanding of these processes has benefited from the isolation and analysis of mutants, with the meiotic divisions in the male germline of Drosophila being particularly well suited to the identification of the required genes. We show here that ...

Journal: :Journal of Bacteriology 1952

1998
NICOLE DUSCH ALFRED PÜHLER

The Corynebacterium glutamicum panD gene was identified by functional complementation of an Escherichia coli panD mutant strain. Sequence analysis revealed that the coding region of panD comprises 411 bp and specifies a protein of 136 amino acid residues with a deduced molecular mass of 14.1 kDa. A defined C. glutamicum panD mutant completely lacked L-aspartate-a-decarboxylase activity and exhi...

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...

2013
Varun Pandey Hagit Turm Uriya Bekenstein Sagiv Shifman Sebastian Kadener

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a neurodegenerative disorder with a poorly understood molecular mechanism. It is caused by mutations in Pantothenate Kinase, the first enzyme in the Coenzyme A (CoA) biosynthetic pathway. Here, we developed a Drosophila model of PKAN (tim-fbl flies) that allows us to continuously monitor the modeled disease in the brain. In tim-fbl flie...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید