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.(Val181Leu) c.541G>T Exon6 CM991066 Compound heterozygote case 4 harbored the p.Val181Leu substitution and a large 3.6-kb deletion determining a null allele with low transcript levels
| Title : Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy - Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| Author(s) : Santorelli FM , Garavaglia B , Cardona F , Nardocci N , Bernardina BD , Sartori S , Suppiej A , Bertini E , Claps D , Battini R , Biancheri R , Filocamo M , Pezzini F , Simonati A |
| Ref : Orphanet J Rare Dis , 8 :19 , 2013 |
| Abstract : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| ESTHER : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedSearch : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedID: 23374165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients - Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| Author(s) : Perez-Poyato MS , Mila Recansens M , Ferrer Abizanda I , Montero Sanchez R , Rodriguez-Revenga L , Cusi Sanchez V , Garcia Gonzalez MM , Domingo Jimenez R , Camino Leon R , Velazquez Fragua R , Martinez-Bermejo A , Pineda Marfa M |
| Ref : J Inherit Metab Dis , 34 :1083 , 2011 |
| Abstract : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| ESTHER : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| PubMedSearch : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
| PubMedID: 21499717 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations - Simonati_2009_Pediatr.Neurol_40_271 |
| Author(s) : Simonati A , Tessa A , Bernardina BD , Biancheri R , Veneselli E , Tozzi G , Bonsignore M , Grosso S , Piemonte F , Santorelli FM |
| Ref : Pediatr Neurol , 40 :271 , 2009 |
| Abstract : Simonati_2009_Pediatr.Neurol_40_271 |
| ESTHER : Simonati_2009_Pediatr.Neurol_40_271 |
| PubMedSearch : Simonati_2009_Pediatr.Neurol_40_271 |
| PubMedID: 19302939 |
| Gene_locus related to this paper: human-PPT1 |