| Type | Description |
|---|---|
| Definition | ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:22:00 | Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium. | 32592935 |
| 2020-11-21 13:26:00 | Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease. | 32719489 |
| 2020-09-19 16:23:00 | Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. | 31025705 |
| 2019-01-26 11:56:00 | These results show that CLN3 deficiency alters antigen presenting cells, which can be a major contributor to the autoimmune response in juvenile neuronal ceroid lipofuscinosis. | 27101989 |
| 2019-01-12 10:06:00 | Loss of CLN3 protein leads to early presynaptic changes and altered short-term plasticity in a mouse model of juvenile Batten disease. | 29780879 |
| Type | IDs |
|---|---|
| Synonymous | AI323623 |
| Gene |
UniProtKB-ID:
CLN3_MOUSE,
Q6PAH4_MOUSE
UniprotKB:
Q61124,
Q6PAH4
UniParc:
UPI00000235A3,
UPI00001D956F
EMBL:
U68064,
BC060306,
BC058753,
U92811,
AC125169,
BC080759,
U47106
Ensembl:
ENSMUSG00000030720
KO:
mmu:12752
|
| Nucleutide sequences |
EMBL-CDS:
AAC52957.1,
AAB07595.1,
AAB69983.1,
AAH80759.1,
AAH58753.1,
AAH60306.1
Ensembl_TRS:
ENSMUST00000116269,
ENSMUST00000084589,
ENSMUST00000032962,
ENSMUST00000098036
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000111973,
ENSMUSP00000032962,
ENSMUSP00000081636,
ENSMUSP00000095644
RefSeq:
XP_036008518.1,
XP_036008513.1,
XP_036008515.1,
NP_034037.3,
XP_036008514.1,
XP_006507355.1,
NP_001316718.1,
XP_006507356.1,
XP_036008516.1,
NP_001139783.1,
XP_006507351.1,
XP_030097918.1,
XP_017177452.1,
XP_036008517.1
|
| Others |
UniRef100:
UniRef100_Q6PAH4,
UniRef100_Q61124
UniRef90:
UniRef90_Q61124
UniRef50:
UniRef50_Q61124
UniGene:
Mm.268930
CCDS:
CCDS21833.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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