Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have conducted a quantitative analysis of Langerhans cells (LC) in skin biopsies of 20 patients with various connective tissue diseases. Clinically normal skin of SLE patients as well as lesional skin of DLE showed consistently normal LC densities as assessed using ATPase staining, anti-DR and anti-OKT6. Examination of LC in clinically involved skin of patients with scleroderma revealed an absolute or relative decrease in ATPase and OKT6 expression, while staining with anti-DR gave inconclusive results. Clinically normal skin of the same individuals showed basically normal LC density. These findings suggest that the perturbation of the LC population is probably an expression of a secondary local phenomenon, and does not reflect a more widespread derangement of the accessory cells in the skin.
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PMID:Langerhans cells in connective tissue diseases. 295 89

We have examined biopsy material from the left m. vastus lateralis of eight patients suffering from rheumatoid arthritis and four patients with progressive systemic sclerosis (scleroderma). All were chosen according to the duration and the severity of disease, so that the broadest possible spectrum of signs and symptoms could be considered. Muscular specimens showed a selective and constant atrophy of the type IIB fibers, as revealed by the myofibrillar ATPase histochemical reaction (both at a pH of 9.4 and with pre-incubation at pH 4.35 and 4.63). Atrophy of the type I fibers was seen only occasionally. Neither structural abnormalities, such as 'motheaten' fibers, nor inflammatory reactions were observed. We think that (1) changes in skeletal muscles of patients with rheumatoid arthritis and progressive systemic sclerosis may be quite selective, and (2) the myopathy associated with rheumatoid arthritis can be differentiated from inflammatory myopathies, even in muscle biopsy specimens, on the basis of histoenzymologic investigations.
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PMID:Selective atrophy of the type IIb muscle fibers in rheumatoid arthritis and progressive systemic sclerosis (scleroderma). A biopsy histochemical study. 667 81

Human DNA helicase II (HDH II) is a novel ATP-dependent DNA unwinding enzyme, purified to apparent homogeneity from HeLa cells, which (i) unwinds exclusively DNA duplexes, (ii) prefers partially unwound substrates and (iii) proceeds in the 3' to 5' direction on the bound strand. HDH II is a heterodimer of 72 and 87 kDa polypeptides. It shows single-stranded DNA-dependent ATPase activity, as well as double-stranded DNA binding capacity. All these activities comigrate in gel filtration and glycerol gradients, giving a sedimentation coefficient of 7.4S and a Stokes radius of approximately 46 A, corresponding to a native molecular weight of 158 kDa. The antibodies raised in rabbit against either polypeptide can remove from the solution all the activities of HDH II. Photoaffinity labelling with [alpha-32P]ATP labelled both polypeptides. Microsequencing of the separate polypeptides of HDH II and cross-reaction with specific antibodies showed that this enzyme is identical to Ku, an autoantigen recognized by the sera of scleroderma and lupus erythematosus patients, which binds specifically to duplex DNA ends and is regulator of a DNA-dependent protein kinase. Recombinant HDH II/Ku protein expressed in and purified from Escherichia coli cells showed DNA binding and helicase activities indistinguishable from those of the isolated protein. The exclusively nuclear location of HDH II/Ku antigen, its highly specific affinity for double-stranded DNA, its abundance and its newly demonstrated ability to unwind exclusively DNA duplexes, point to an additional, if still unclear, role for this molecule in DNA metabolism.
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PMID:Human DNA helicase II: a novel DNA unwinding enzyme identified as the Ku autoantigen. 795 65

Werner's syndrome is a typical progeroid syndrome with many specific features of aging early in life. Clinical features of Werner's syndrome closely resemble accelerated aging, such as cataract, scleroderma skin, diabetes and tumorigenesis. The causative gene of this syndrome is denoted as WRN, which encodes a homolog of the E. coli RecQ DNA helicase and is located on chromosome 8p2-p11.2. WRN is not only a helicase but also an exonuclease and ATPase. WRN protein plays a key role in genome stability, particularly during DNA replication and telomere metabolism. In this review, we introduce the clinical characteristics of Werner's syndrome and recent topics concerning WRN in comparison with other progeroid syndromes.
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PMID:[WRN gene]. 1959 Dec 72

The small guanosine triphosphatase Rho and its target Rho kinase are involved in a heterogeneous spectrum of cellular activities, many of which are integral to cytoskeletal organization. Furthermore, the Rho kinases result in NF kappa beta activation and hence the induction of various pro-inflammatory cytokines including TNF-alpha, IL-1B and IL-6. ROCK2 is a downstream protein, whose expression is indicative of Rho Kinase activation. Given the diverse effects of Rho-kinase, including a potentially critical role in augmenting inflammation, ROCK2 expression was examined in biopsies of select autoimmune connective tissue diseases as compared to control diagnoses. Select cases of lupus erythematosus, dermatomyositis, autoimmune sclerodermoid disorders and Kohlmeier-Degos disease (a distinctive vasculopathy that occurs in the other aforesaid conditions but also as a forme fruste microvascular and arteriopathic syndrome) were studied. Control biopsies included normal skin and cutaneous inflammatory conditions unrelated to collagen vascular disease/autoimmune disease. We found ROCK2 expression significantly increased in biopsies of lupus erythematosus, dermatomyositis, scleroderma and Kohlmeier-Degos disease. A pattern emerged of consistent marked ROCK2 upregulation in endothelium and variable expression in inflammatory cells and epithelium. While expression was undetectable in normal skin, it was found in inflamed skin unrelated to specific autoimmune disease. The staining pattern could approach that seen in study group cases but was less pronounced and preferentially upregulated in the endothelium, with a lesser extent of staining in the epidermis and inflammatory cells. Rho kinase is a driving factor in diverse cutaneous diseases especially autoimmune disease and Kohlmeier-Degos disease. This significantly upregulated pathway defines a potential target for biologic therapy.
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PMID:Enhanced cutaneous Rock2 expression as a marker of Rho Kinase pathway activation in autoimmune disease and Kohlemeier-Degos disease. 3177 51