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Mutation Report for: R122W_human-PPT1

R122W_human-PPT1
Gene_Locus|human-PPT1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.(Arg122Trp) c.364A>T Exon 4. The R122W mutant protein was retained in the endoplasmic reticulum, was not secreted, and had undetectable enzyme activity rs137852695
    Kinetic parameters|none


    References:
      Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
      Kousi M, Lehesjoki AE, Mole SE
      Ref: Hum Mutat, 33:42, 2012 : PubMed

              

      Title: Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice
      Kim SJ, Zhang Z, Sarkar C, Tsai PC, Lee YC, Dye L, Mukherjee AB
      Ref: J Clinical Investigation, 118:3075, 2008 : PubMed

              

      Title: Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency
      Kalviainen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Jarvela I, Autti T, Vanninen R and van Diggelen OP <1 more author(s)>
      Ref: Eur Journal of Neurology, 14:369, 2007 : PubMed

              

      Title: Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL
      Kim SJ, Zhang Z, Hitomi E, Lee YC, Mukherjee AB
      Ref: Hum Mol Genet, 15:1826, 2006 : PubMed

              

      Title: Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S
      Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL
      Ref: Journal of Clinical Investigation, 102:361, 1998 : PubMed

              

      Title: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
      Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L
      Ref: Nature, 376:584, 1995 : PubMed

              




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