“CLN8”的意思、由来-开放百科全书

This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum (ER) and recycles between the ER and the Golgi apparatus via COPII- and COPI-coated vesicles.^[3] CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.^[4]

Clinical

Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.

References

1. ^{{cite journal | vauthors = Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE | title = The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 | journal = Nat Genet | volume = 23 | issue = 2 | pages = 233–6 |date=Oct 1999 | pmid = 10508524 | pmc = | doi = 10.1038/13868 }}
2. ^{{cite web | title = Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2055| accessdate = }}
3. ^{{cite journal | vauthors = di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M | year = 2018 | title = CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis | url = https://www.nature.com/articles/s41556-018-0228-7| journal = Nature Cell Biology | volume = 20| issue = 12| pages = 1370–1377| doi=10.1038/s41556-018-0228-7| pmid = 30397314 | pmc = 6277210}}
4. ^{{cite journal | vauthors = di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M | year = 2018 | title = CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis | url = https://www.nature.com/articles/s41556-018-0228-7| journal = Nature Cell Biology | volume = 20| issue = 12| pages = 1370–1377| doi=10.1038/s41556-018-0228-7| pmid = 30397314 | pmc = 6277210}}

Further reading

{{Cite journal | vauthors=Dawson G, Cho S |title=Batten's disease: clues to neuronal protein catabolism in lysosomes. |journal=J. Neurosci. Res. |volume=60 |issue= 2 |pages= 133–40 |year= 2000 |pmid= 10740217 |doi=10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 }}

{{Cite journal | vauthors=Ranta S, Lehesjoki AE |title=Northern epilepsy, a new member of the NCL family. |journal=Neurol. Sci. |volume=21 |issue= 3 Suppl |pages= S43–7 |year= 2001 |pmid= 11073227 |doi=10.1007/s100720070039 }}

{{Cite journal | vauthors=Winter E, Ponting CP |title=TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? |journal=Trends Biochem. Sci. |volume=27 |issue= 8 |pages= 381–3 |year= 2002 |pmid= 12151215 |doi=10.1016/S0968-0004(02)02154-0 }}

{{Cite journal | author=Ranta S |title=Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p |journal=Genome Res. |volume=6 |issue= 5 |pages= 351–60 |year= 1996 |pmid= 8743986 |pmc=6145179 |doi=10.1101/gr.6.5.351 |name-list-format=vanc| author2=Lehesjoki AE | author3=Hirvasniemi A | display-authors=3 | last4=Weissenbach | first4=J | last5=Ross | first5=B | last6=Leal | first6=S M | last7=De La Chapelle | first7=A | last8=Gilliam | first8=T C }}

{{Cite journal | author=Lonka L |title=The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum |journal=Hum. Mol. Genet. |volume=9 |issue= 11 |pages= 1691–7 |year= 2000 |pmid= 10861296 |doi=10.1093/hmg/9.11.1691 |name-list-format=vanc| author2=Kyttälä A | author3=Ranta S | display-authors=3 | last4=Jalanko | first4=A | last5=Lehesjoki | first5=AE }}

{{Cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}

{{Cite journal | author=Verhoeven K |title=Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10 |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 926–32 |year= 2003 |pmid= 14508709 |doi= 10.1086/378159 | pmc=1180612 |name-list-format=vanc| author2=De Jonghe P | author3=Van de Putte T | display-authors=3 | last4=Nelis | first4=Eva | last5=Zwijsen | first5=An | last6=Verpoorten | first6=Nathalie | last7=De Vriendt | first7=Els | last8=Jacobs | first8=An | last9=Van Gerwen | first9=Veerle }}

{{Cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}

{{Cite journal | author=Ranta S |title=Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy |journal=Hum. Mutat. |volume=23 |issue= 4 |pages= 300–5 |year= 2004 |pmid= 15024724 |doi= 10.1002/humu.20018 |name-list-format=vanc| author2=Topcu M | author3=Tegelberg S | display-authors=3 | last4=Tan | first4=Hüseyin | last5=Üstübütün | first5=Alp | last6=Saatci | first6=Isil | last7=Dufke | first7=Andreas | last8=Enders | first8=Herbert | last9=Pohl | first9=Keith }}

{{Cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}

{{Cite journal | author=Hermansson M |title=Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study |journal=J. Neurochem. |volume=95 |issue= 3 |pages= 609–17 |year= 2005 |pmid= 16086686 |doi= 10.1111/j.1471-4159.2005.03376.x |name-list-format=vanc| author2=Käkelä R | author3=Berghäll M | display-authors=3 | last4=Lehesjoki | first4=Anna-Elina | last5=Somerharju | first5=Pentti | last6=Lahtinen | first6=Ulla }}

{{Cite journal | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |name-list-format=vanc| author2=Wakamatsu A | author3=Suzuki Y | display-authors=3 | last4=Ota | first4=T | last5=Nishikawa | first5=T | last6=Yamashita | first6=R | last7=Yamamoto | first7=J | last8=Sekine | first8=M | last9=Tsuritani | first9=K }}

Molecular biology

Clinical

References

External links

Further reading