Type | Description |
---|---|
Definition | ceroid-lipofuscinosis, neuronal 5 |
Date | Results | Publications |
---|---|---|
2020-05-16 10:14:00 | Results show that loss of CLN5 triggers alterations in development and defects in embryonic interneurons. This may occur through increased binding of REST to Gad1. The study presents evidence that CLN5 functions as a critical modulator of key parameters required for proper neuronal development and maturation, and that the neurodegenerative processes of CLN5 disease pathophysiology have a neurodevelopmental component. | 31294445 |
2019-02-16 11:04:00 | Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder | 29514215 |
2018-05-19 10:03:00 | neurogenesis is increased in Cln5-deficient mice, which model the childhood neurodegenerative disorder caused by loss of Cln5. | 28733362 |
2015-02-07 11:47:00 | Rssults suggested that CLN2, CLN3 and CLN5 genes may play an important role in early embryonal neurogenesis. | 25303899 |
2013-09-14 11:37:00 | The simultaneous loss of both Cln1 and Cln5 genes might enhance the typical pathological phenotypes of these mice by disrupting or downregulating shared or convergent pathogenic pathways. | 23065637 |
Type | IDs |
---|---|
Synonymous | A730075N08Rik |
Gene |
UniProtKB-ID:
CLN5_MOUSE,
B2RUP8_MOUSE
UniprotKB:
Q3UMW8,
B2RUP8
UniParc:
UPI00001C5624
EMBL:
AK144635,
AK032293,
BC141314,
BC025487,
BC141315
Ensembl:
ENSMUSG00000022125
KO:
mmu:211286
|
Nucleutide sequences |
EMBL-CDS:
BAC27797.1,
AAH25487.1,
BAE25980.1,
AAI41315.1,
AAI41316.1
Ensembl_TRS:
ENSMUST00000022721
|
Protein sequencees |
Ensembl_PRO:
ENSMUSP00000022721
RefSeq:
NP_001028414.1
|
Others |
UniRef100:
UniRef100_Q3UMW8
UniRef90:
UniRef90_Q3UMW8
UniRef50:
UniRef50_O75503
UniGene:
Mm.295289
CCDS:
CCDS27314.1
|
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Refseq |
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