Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria
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چکیده
منابع مشابه
Homogentisate 1,2 Dioxygenase is Expressed in Human Osteoarticular Cells: Implications in Alkaptonuria
Alkaptonuria (AKU) results from defective homogentisate1,2-dioxygenase (HGD), causing degenerative arthropathy. The deposition of ochronotic pigment in joints is so far attributed to homogentisic acid produced by the liver, circulating in the blood and accumulating locally. Human normal and AKU osteoarticular cells were tested for HGD gene expression by RT-PCR, mono- and 2D-Western blotting. HG...
متن کاملOcular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
AIMS To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. METHODS A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide pri...
متن کاملFirst Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria
Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase gene (HGD). Alkaptonuria is invariably associated with HGD mutations, which consist of single nucleotide variants and small insertions/deletions. Surprisingly, the presence of d...
متن کاملtsga10 is specifically expressed in astrocyte and over-expressed in brain tumors
in this study tsga10 has been demonstrated as a testis-specific human gene that encodes a protein localized in sperm-tail and conserved in ciliary structure. further investigations showed tsga10 signalling and expression during embryogenesis, brain development and some malignancies including brain tumors. given the role of this protein in neuronal development and in certain tumors, it could pot...
متن کاملMolecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase
Alkaptonuria is an inherited disease that is caused by homogenticate accumulation. Deficiency or mutation in Homogentisate 1,2 dioxygenase gene (chromosome 3q21-q23) leads to production of incorrectly folded or truncated enzyme. Several studies indicated that competitive inhibitors of Homogentisate 1,2 dioxygenase like Nitisinone could be used for Alkaptonuria treatment. Therefore, it is of int...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2015
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-015-9829-5