Gene Locus : human-PPT1
Mode of mutation : Natural mutant
Disease : Infantile neuronal ceroid lipofuscinosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
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
| Title : Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses - Kousi_2012_Hum.Mutat_33_42 |
| Author(s) : Kousi M , Lehesjoki AE , Mole SE |
| Ref : Hum Mutat , 33 :42 , 2012 |
| Abstract : |
| PubMedSearch : Kousi_2012_Hum.Mutat_33_42 |
| PubMedID: 21990111 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice - Kim_2008_J.Clin.Invest_118_3075 |
| Author(s) : Kim SJ , Zhang Z , Sarkar C , Tsai PC , Lee YC , Dye L , Mukherjee AB |
| Ref : J Clinical Investigation , 118 :3075 , 2008 |
| Abstract : |
| PubMedSearch : Kim_2008_J.Clin.Invest_118_3075 |
| PubMedID: 18704195 |
| Gene_locus related to this paper: mouse-ppt , human-PPT1 |
| Title : Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency - Kalviainen_2007_Eur.J.Neurol_14_369 |
| Author(s) : Kalviainen R , Eriksson K , Losekoot M , Sorri I , Harvima I , Santavuori P , Jarvela I , Autti T , Vanninen R , Salmenpera T , van Diggelen OP |
| Ref : Eur Journal of Neurology , 14 :369 , 2007 |
| Abstract : |
| PubMedSearch : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedID: 17388982 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL - Kim_2006_Hum.Mol.Genet_15_1826 |
| Author(s) : Kim SJ , Zhang Z , Hitomi E , Lee YC , Mukherjee AB |
| Ref : Hum Mol Genet , 15 :1826 , 2006 |
| Abstract : |
| PubMedSearch : Kim_2006_Hum.Mol.Genet_15_1826 |
| PubMedID: 16644870 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361 |
| Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL |
| Ref : Journal of Clinical Investigation , 102 :361 , 1998 |
| Abstract : |
| PubMedSearch : Das_1998_J.Clin.Invest_102_361 |
| PubMedID: 9664077 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis - Vesa_1995_Nature_376_584 |
| Author(s) : Vesa J , Hellsten E , Verkruyse LA , Camp LA , Rapola J , Santavuori P , Hofmann SL , Peltonen L |
| Ref : Nature , 376 :584 , 1995 |
| Abstract : |
| PubMedSearch : Vesa_1995_Nature_376_584 |
| PubMedID: 7637805 |
| Gene_locus related to this paper: human-PPT1 |