Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.6.4.4 (kinesin)
 5,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

rK39 is a recombinant product of the 39 amino acid repeats found in a kinesin-like gene of visceral Leishmania spp. This and other antigens were compared for immunodiagnostic potential by enzyme-linked immunosorbent assay with sera from confirmed cases of Asian cutaneous and visceral leishmaniasis. In preliminary trials, rK39 proved superior to 2 purified Leishmania antigens, a cytosolic protein (p36) and a membrane protein (gp63), for immunodiagnosis of visceral leishmaniasis. Of the 53 visceral cases from China and Pakistan assayed, 52 were seropositive (98%) at a 10(-1) dilution with 36 ng of rK39. End point titrations of 27 highly positive samples yielded anti-rK39 antibody titres ranging from c. 10(-3) to beyond 10(-4). Antigen titrations with one positive serum further revealed that rK39 was 25-fold more sensitive than Leishmania whole cell soluble lysates. 31 cutaneous leishmaniasis cases from Turkey assayed for anti-rK39 antibody gave reactions ranging from negative or marginally positive to positive. In Brazil, all cutaneous and mucocutaneous leishmaniasis cases gave negative results in this assay.
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PMID:Serodiagnosis of Asian leishmaniasis with a recombinant antigen from the repetitive domain of a Leishmania kinesin. 799 33

Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARCMT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, and kinesin) have been associated with the CMT2 phenotype. We identified a novel neurofilament-light missense mutation (C64T) that causes the disease in a large Slovenian CMT2 family. This novel mutation shows complete co-segregation with the dominantly inherited CMT2 phenotype in our family.
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PMID:A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 1248 88