The detail information of Neuronal ceroid lipofuscinosis, 1
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2010
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB83 | Dachshund | 20.3-22.9 cm (standard), 12.7-15.2 cm (miniature) | 7.3-14.5 kg (standard), 5 kg & under (miniature) | Germany | ||
| CB62 | Cane Corso(Italian Mastiff) | 63.5-69.9 cm (male), 59.7-66 cm (female) | Proportionate to height | Italy |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| PPT1 | palmitoyl-protein thioesterase 1 | Canis lupus familiaris | Chr15 : 2902313 - 2973313 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
| 2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
| 2017 |
Kolicheski,A.,BarnesHeller,H.L.,Arnold,S.,Schnabel,R.D.,Taylor,J.F.,Knox,C.A.,Mhlanga-Mutangadura,T.,O'Brien,D.P.,Johnson,G.S.,Dreyfus,J.,Katz,M.L.: :
Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. J Vet Intern Med 31:149-157, 2017. Pubmed reference: 28008682 . DOI: 10.1111/jvim.14632 . |
| 2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
| 2010 |
Bellettato,C.M.,Scarpa,M.: :
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:347-62, 2010. Pubmed reference: 20429032 . DOI: 10.1007/s10545-010-9075-9 . |
| 2010 |
Sanders,DN.,Farias,FH.,Johnson,GS.,Chiang,V.,Cook,JR.,O'Brien,DP.,Hofmann,SL.,Lu,JY.,Katz,ML.: :
A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100:349-56, 2010. Pubmed reference: 20494602 . DOI: 10.1016/j.ymgme.2010.04.009 . |