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Mnk kinase homologous proteins involved in the regulation of energy homeostasis and organelle metabolism

机译:Mnk激酶同源蛋白参与能量稳态和细胞器代谢的调节

摘要

This invention relates to the use of nucleic acid sequences of the MAP kinase-interacting kinase (Mnk) gene family and amino acid sequences encoded thereby, and to using these sequences or effectors of Mnk nucleic acids or polypeptides, particularly Mnk kinase inhibitors and activators, in the diagnosis and treatment of diseases and disorders related to body-weight regulation and thermogenesis. One aspect of the disclosure encompasses methods of identifying an animal or human having an elevated probability of having or developing a pancreatic malfunction, the method comprising: (a) obtaining a biological sample from an animal or human subject; and (b) determining from the biological sample whether the subject has a genetic variant of an Mnk2 and/or Mnk1 gene or a homolog thereof, or an expression product of said Mnk2 and/or Mnk1 gene or homolog thereof, wherein said genetic variant is associated with an elevated probability of having or developing a pancreatic malfunction.
机译:本发明涉及MAP激酶相互作用激酶(Mnk)基因家族的核酸序列和由此编码的氨基酸序列的用途,并涉及使用这些Mnk核酸或多肽的序列或效应子,特别是Mnk激酶抑制剂和激活剂,在与体重调节和生热有关的疾病和疾病的诊断和治疗中。本公开内容的一个方面包括鉴定具有发生或发展为胰腺功能障碍的可能性较高的动物或人的方法,该方法包括:(a)从动物或人受试者获得生物样品; (b)从生物学样品中确定受试者是否具有Mnk2和/或Mnk1基因或其同源物的遗传变异体,或所述Mnk2和/或Mnk1基因或其同源物的表达产物,其中所述遗传变异体为与发生或发展胰腺功能衰竭的可能性增加有关。

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