Neurodegeneration-associated FUS is a novel regulator of circadian gene expression
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چکیده
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A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
متن کاملa novel nonsense mutation in pank2 gene in two patients with pantothenate kinase-associated neurodegeneration
pantothenate kinase- associated neurodegeneration (pkan) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. it has been shown that the disorder is caused by mutations in pank2 gene which codes for a mitochondrial enzyme participating in coenzyme a biosynthe...
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Introduction: GTPase regulator associated with focal adhesion kinase (GRAF) is a recently identified GTPase activating protein that has the tumor suppressor properties. However, the expression level of GRAF in leukemia had received less attention. The main purpose of this research was the evaluating of the expression level of GRAF in patients with acute myeloid leukemia (AML). Materials and met...
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متن کاملCircadian Regulator CLOCK Is a Histone Acetyltransferase
The molecular machinery that governs circadian rhythmicity comprises proteins whose interplay generates time-specific transcription of clock genes. The role of chromatin remodeling in a physiological setting such as the circadian clock is yet unclear. We show that the protein CLOCK, a central component of the circadian pacemaker, has histone acetyltransferase (HAT) activity. CLOCK shares homolo...
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ژورنال
عنوان ژورنال: Translational Neurodegeneration
سال: 2018
ISSN: 2047-9158
DOI: 10.1186/s40035-018-0131-y