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Mutation Report for: G342R_human-LIPA

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|c.1024G>A, p.G342R (Gly342Arg) . Found in combination with other variants including S275-Q298del
    Kinetic parameters|none

      Title: Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
      Vinje T, Laerdahl JK, Bjune K, Leren TP, Strom TB
      Ref: Hum Mol Genet, 28:3043, 2019 : PubMed


      Title: Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
      Vinje T, Wierod L, Leren TP, Strom TB
      Ref: Mol Genet Metab, 123:169, 2018 : PubMed


      Title: Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants
      Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L and Calandra S <7 more author(s)>
      Ref: Atherosclerosis, 265:124, 2017 : PubMed


      Title: New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease)
      Gomez-Najera M, Barajas-Medina H, Gallegos-Rivas MC, Mendez-Sashida P, Goss KA, Sims KB, Tripuraneni R, Valles-Ayoub Y
      Ref: J Pediatr Gastroenterol Nutr, 60:e22, 2015 : PubMed


      Title: Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease
      Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S
      Ref: Mol Genet Metab, 105:450, 2012 : PubMed


      Title: Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease
      Anderson RA, Bryson GM, Parks JS
      Ref: Mol Genet Metab, 68:333, 1999 : PubMed


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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