title: Low-molecular-weight protein tyrosine phosphatase and human disease: in search of biochemical mechanisms.
abstract: A major challenge in the post-genomic era is to identify the physiological functions of genes and elucidate the molecular basis for human disease. Genetic polymorphisms offer a convenient avenue for these efforts by providing evidence for the involvement of a given gene in human pathophysiology. Here we review the current evidence linking the low-molecular-weight protein tyrosine phosphatase (LMPTP) to several common diseases, including allergy, asthma, obesity, myocardial hypertrophy, and Alzheimer's disease. Based on the known effects of the genetic polymorphisms on the alternative mRNA splicing and enzyme levels of LMPTP, we discuss the possible molecular mechanisms of LMPTP involvement in these diseases.
authors.affiliation: Program of Signal Transduction, La Jolla Cancer Research Center, The Burnham Institute, CA 92037, USA.
authors.forename: Nunzio
authors.initials: N
authors.lastname: Bottini
authors.forename: Egidio
authors.initials: E
authors.lastname: Bottini
authors.forename: Fulvia
authors.initials: F
authors.lastname: Gloria-Bottini
authors.forename: Tomas
authors.initials: T
authors.lastname: Mustelin
mesh_terms: D017398:Alternative Splicing; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics; D001172:Arthritis, Rheumatoid / Q000201:enzymology / Q000235:genetics; D001249:Asthma / Q000201:enzymology / Q000235:genetics; D001921:Brain / Q000201:enzymology; D006332:Cardiomegaly / Q000201:enzymology / Q000235:genetics; D003920:Diabetes Mellitus / Q000201:enzymology / Q000235:genetics; D005314:Embryonic and Fetal Development / Q000502:physiology; D005236:Favism / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D006967:Hypersensitivity / Q000201:enzymology / Q000235:genetics; D015212:Inflammatory Bowel Diseases / Q000201:enzymology / Q000235:genetics; D007527:Isoenzymes / Q000235:genetics* / Q000378:metabolism*; D008288:Malaria / Q000201:enzymology / Q000235:genetics; D009765:Obesity / Q000201:enzymology / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy; D017027:Protein Tyrosine Phosphatases / Q000235:genetics* / Q000378:metabolism*; D011518:Proto-Oncogene Proteins
chemical_list: D007527:Isoenzymes; D011518:Proto-Oncogene Proteins; C490429:ACP1 protein, human; D017027:Protein Tyrosine Phosphatases