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.(Cys45Tyr) c.134G>A Exon2 a patient compound heterozygote 2 mutations in the PPT1 gene: a 134A-G transition, resulting in a cys45-to-tyr (C45Y) substitution, and R151X rs137852702, CM070245
| Title : The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy - Miller_2015_Hum.Mol.Genet_24_185 |
| Author(s) : Miller JN , Kovacs AD , Pearce DA |
| Ref : Hum Mol Genet , 24 :185 , 2015 |
| Abstract : Miller_2015_Hum.Mol.Genet_24_185 |
| ESTHER : Miller_2015_Hum.Mol.Genet_24_185 |
| PubMedSearch : Miller_2015_Hum.Mol.Genet_24_185 |
| PubMedID: 25205113 |
| 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 : Kousi_2012_Hum.Mutat_33_42 |
| ESTHER : Kousi_2012_Hum.Mutat_33_42 |
| PubMedSearch : Kousi_2012_Hum.Mutat_33_42 |
| PubMedID: 21990111 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 - |
| Author(s) : Ramadan H , Al-Din AS , Ismail A , Balen F , Varma A , Twomey A , Watts R , Jackson M , Anderson G , Green E , Mole SE |
| Ref : Neurology , 68 :387 , 2007 |
| PubMedID: 17261688 |
| Gene_locus related to this paper: human-PPT1 |