C1QTNF5: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''C1q and tumor necrosis factor related protein 5''', also known as '''C1QTNF5''', is a [[protein]] which in humans is encoded by the ''C1QTNF5'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: C1QTNF5 C1q and tumor necrosis factor related protein 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114902| accessdate = }}</ref><ref name="pmid12944416">{{cite journal | vauthors = Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF | title = Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration | journal = Hum. Mol. Genet. | volume = 12 | issue = 20 | pages = 2657–67 |date=October 2003 | pmid = 12944416 | doi = 10.1093/hmg/ddg289 | url = | issn = }}</ref>
'''C1q and tumor necrosis factor related protein 5''', also known as '''C1QTNF5''', is a [[protein]] which in humans is encoded by the ''C1QTNF5'' [[gene]] . <ref name="pmid28939808" /><ref name="entrez">{{cite web|url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114902|title=Entrez Gene: C1QTNF5 C1q and tumor necrosis factor related protein 5|access-date=}}</ref>The C1QTNF5 gene secreted and membrane-linked to a protein which is strongly expressed in retinal pigment epithelium cells(RPE).<ref name=":0">{{cite journal | vauthors = Tu X, Palczewski K | title = Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration | journal = Journal of Structural Biology | volume = 180 | issue = 3 | pages = 439–46 | date = December 2012 | pmid = 22892318 | doi = 10.1016/j.jsb.2012.07.011 }}</ref><ref name = ":1">{{cite journal | vauthors = Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C | title = Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration | journal = Scientific Reports | volume = 7 | issue = 1 | pages = 12147 | date = September 2017 | pmid = 28939808 | doi = 10.1038/s41598-017-11898-3 }}</ref><ref name="pmid12944416">{{cite journal | vauthors = Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF | title = Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration | journal = Human Molecular Genetics | volume = 12 | issue = 20 | pages = 2657–67 | date = October 2003 | pmid = 12944416 | doi = 10.1093/hmg/ddg289 }}</ref>


== Function ==
== Function ==


The CTRP5 protein is a member of the [[C1QA|C1q]] / [[tumor necrosis factor]] superfamily, which shows diverse functions including [[cell adhesion]] and as components of the [[basement membrane]].<ref name="pmid9512423">{{cite journal | vauthors = Shapiro L, Scherer PE | title = The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor | journal = Curr. Biol. | volume = 8 | issue = 6 | pages = 335–8 |date=March 1998 | pmid = 9512423 | doi = 10.1016/S0960-9822(98)70133-2| url = http://linkinghub.elsevier.com/retrieve/pii/S0960-9822(98)70133-2 | issn = }}</ref> C1QTNF5 is mutant in late-onset [[Retinopathy|retinal degeneration]].<ref name="entrez" />
The CTRP5 protein is a member of the [[C1QA|C1q]] / [[tumor necrosis factor]] superfamily, which shows diverse functions including [[cell adhesion]] and as components of the [[basement membrane]].<ref name="pmid9512423">{{cite journal | vauthors = Shapiro L, Scherer PE | title = The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor | journal = Current Biology | volume = 8 | issue = 6 | pages = 335–8 | date = March 1998 | pmid = 9512423 | doi = 10.1016/S0960-9822(98)70133-2 }}</ref>  


==References==
== Clinical significance ==
 
A mutation in the C1QTNF5 gene causes late-onset [[Retinopathy|retinal degeneration]].<ref name="entrez" />
More specifically, a single missense mutation (S163R) in the encoded C1QTNF5 protein causes the Late-onset retinal degeneration disease(L-ORD).<ref name="pmid28939808">{{cite journal | vauthors = Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C | title = Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration | journal = Scientific Reports | volume = 7 | issue = 1 | pages = 12147 | date = September 2017 | pmid = 28939808 | pmc = 5610255 | doi = 10.1038/s41598-017-11898-3 }}</ref>
 
== Structure ==
The structure of C1q and Tumor Necrosis Factor Related Protein 5 (C1QTNF5) which is also called CTRP5<ref>{{cite journal | vauthors = Shu X, Tulloch B, Lennon A, Vlachantoni D, Zhou X, Hayward C, Wright AF | title = Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5 | journal = Human Molecular Genetics | volume = 15 | issue = 10 | pages = 1680–9 | date = May 2006 | pmid = 16600989 | doi = 10.1093/hmg/ddl091 }}</ref> has three essential domains. The first domain is a single peptide which is located in N-terminal,  the second domain is a collage domain and the third domain is a globular complementment 1q (gC1q) that exists in the C-terminal domain.<ref name=":1" /><ref>{{cite journal | vauthors = Mandal MN, Vasireddy V, Reddy GB, Wang X, Moroi SE, Pattnaik BR, Hughes BA, Heckenlively JR, Hitchcock PF, Jablonski MM, Ayyagari R | title = CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion | journal = Investigative Ophthalmology & Visual Science | volume = 47 | issue = 12 | pages = 5505–13 | date = December 2006 | pmid = 17122142 | doi = 10.1167/iovs.06-0312 }}</ref><ref>{{cite journal | vauthors = Chavali VR, Khan NW, Cukras CA, Bartsch DU, Jablonski MM, Ayyagari R | title = A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration | journal = Human Molecular Genetics | volume = 20 | issue = 10 | pages = 2000–14 | date = May 2011 | pmid = 21349921 | doi = 10.1093/hmg/ddr080 }}</ref><ref name=":0" /> <ref name=":2">{{cite journal | vauthors = Dinculescu A, Min SH, Dyka FM, Deng WT, Stupay RM, Chiodo V, Smith WC, Hauswirth WW | title = Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium | journal = Investigative Ophthalmology & Visual Science | volume = 56 | issue = 11 | pages = 6971–80 | date = October 2015 | pmid = 26513502 | doi = 10.1167/iovs.15-17166 }}</ref>The single mutation S163R is found in the gC1q domain which is the main reason for Late-onset retinal degeneration disease(L-ORD).<ref name=":0" /><ref name="pmid12944416" /><ref name=":1" /><ref name=":2" />C1QTNF5 is a part of the C1q family. However, there is a unique feature of the structure of C1QTNF5 that it does not own a Ca 2+ binding site as other members of the C1q family.<ref name=":0" />
 
== Crystal structure ==
Crystal structure of C1QTNF5 has been taken by  Xiongying and Krzysztof and it has two characteristics. One is that the structure of C1QTNF5 seems not to have a Ca 2+ binding site in order to its stability. Also, it is necessary for the function of the members of the C1q family. Another feature is having an unusual sequence which is (F181, F182, G183, G184, W185, P186) that generate a hydrophobic field.  In this area, S163 and F182 build H bond, However, the mutation S163 will make a disruption to the H bond.<ref name=":0" />
 
== References ==
{{reflist}}
{{reflist}}


==External links==
== Further reading ==
* {{UCSC gene info|C1QTNF5}}
 
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Shapiro L, Scherer PE | title = The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor | journal = Current Biology | volume = 8 | issue = 6 | pages = 335–8 | date = March 1998 | pmid = 9512423 | doi = 10.1016/S0960-9822(98)70133-2 }}
| citations =
* {{cite journal | vauthors = Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF | title = Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration | journal = Human Molecular Genetics | volume = 12 | issue = 20 | pages = 2657–67 | date = October 2003 | pmid = 12944416 | doi = 10.1093/hmg/ddg289 }}
*{{cite journal | vauthors=Shapiro L, Scherer PE |title=The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor. |journal=Curr. Biol. |volume=8 |issue= 6 |pages= 335–8 |year= 1998 |pmid= 9512423 |doi=10.1016/S0960-9822(98)70133-2 }}
* {{cite journal | vauthors = Zhang Z, Henzel WJ | title = Signal peptide prediction based on analysis of experimentally verified cleavage sites | journal = Protein Science | volume = 13 | issue = 10 | pages = 2819–24 | date = October 2004 | pmid = 15340161 | pmc = 2286551 | doi = 10.1110/ps.04682504 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 |display-authors=etal}}
* {{cite journal | vauthors = Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA | title = Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation | journal = Investigative Ophthalmology & Visual Science | volume = 46 | issue = 9 | pages = 3363–71 | date = September 2005 | pmid = 16123441 | doi = 10.1167/iovs.05-0159 }}
*{{cite journal | vauthors=Hayward C, Shu X, Cideciyan AV |title=Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. |journal=Hum. Mol. Genet. |volume=12 |issue= 20 |pages= 2657–67 |year= 2004 |pmid= 12944416 |doi= 10.1093/hmg/ddg289 |display-authors=etal}}
* {{cite journal | vauthors = Subrayan V, Morris B, Armbrecht AM, Wright AF, Dhillon B | title = Long anterior lens zonules in late-onset retinal degeneration (L-ORD) | journal = American Journal of Ophthalmology | volume = 140 | issue = 6 | pages = 1127–9 | date = December 2005 | pmid = 16376663 | doi = 10.1016/j.ajo.2005.06.023 }}
*{{cite journal | vauthors=Clark HF, Gurney AL, Abaya E |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003  | pmc=403697 |display-authors=etal}}
* {{cite journal | vauthors = Foster LJ, Rudich A, Talior I, Patel N, Huang X, Furtado LM, Bilan PJ, Mann M, Klip A | title = Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC) | journal = Journal of Proteome Research | volume = 5 | issue = 1 | pages = 64–75 | date = January 2006 | pmid = 16396496 | doi = 10.1021/pr0502626 }}
*{{cite journal  | vauthors=Zhang Z, Henzel WJ |title=Signal peptide prediction based on analysis of experimentally verified cleavage sites. |journal=Protein Sci. |volume=13 |issue= 10 |pages= 2819–24 |year= 2005 |pmid= 15340161 |doi= 10.1110/ps.04682504  | pmc=2286551 }}
* {{cite journal | vauthors = Shu X, Tulloch B, Lennon A, Vlachantoni D, Zhou X, Hayward C, Wright AF | title = Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5 | journal = Human Molecular Genetics | volume = 15 | issue = 10 | pages = 1680–9 | date = May 2006 | pmid = 16600989 | doi = 10.1093/hmg/ddl091 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |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 |display-authors=etal}}
* {{cite journal | vauthors = Shu X, Tulloch B, Lennon A, Hayward C, O'Connell M, Cideciyan AV, Jacobson SG, Wright AF | title = Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration | journal = Advances in Experimental Medicine and Biology | volume = 572 | issue =  | pages = 41–8 | year = 2007 | pmid = 17249553 | doi = 10.1007/0-387-32442-9_7 }}
*{{cite journal | vauthors=Ayyagari R, Mandal MN, Karoukis AJ |title=Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 9 |pages= 3363–71 |year= 2005 |pmid= 16123441 |doi= 10.1167/iovs.05-0159 |display-authors=etal}}
*{{cite journal | vauthors=Subrayan V, Morris B, Armbrecht AM |title=Long anterior lens zonules in late-onset retinal degeneration (L-ORD). |journal=Am. J. Ophthalmol. |volume=140 |issue= 6 |pages= 1127–9 |year= 2006 |pmid= 16376663 |doi= 10.1016/j.ajo.2005.06.023 |display-authors=etal}}
*{{cite journal | vauthors=Foster LJ, Rudich A, Talior I |title=Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC). |journal=J. Proteome Res. |volume=5 |issue= 1 |pages= 64–75 |year= 2006 |pmid= 16396496 |doi= 10.1021/pr0502626 |display-authors=etal}}
*{{cite journal | vauthors=Shu X, Tulloch B, Lennon A |title=Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. |journal=Hum. Mol. Genet. |volume=15 |issue= 10 |pages= 1680–9 |year= 2006 |pmid= 16600989 |doi= 10.1093/hmg/ddl091 |display-authors=etal}}
*{{cite journal | vauthors=Shu X, Tulloch B, Lennon A |title=Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. |journal=Adv. Exp. Med. Biol. |volume=572 |issue=  |pages= 41–8 |year= 2007 |pmid= 17249553 |doi=10.1007/0-387-32442-9_7 |display-authors=etal}}
}}
{{refend}}
{{refend}}


<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
== External links ==
{{PBB_Controls
* {{UCSC gene info|C1QTNF5}}
| update_page = yes
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| update_protein_box = yes
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{{protein-stub}}

Latest revision as of 04:53, 20 November 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

C1q and tumor necrosis factor related protein 5, also known as C1QTNF5, is a protein which in humans is encoded by the C1QTNF5 gene . [1][2]The C1QTNF5 gene secreted and membrane-linked to a protein which is strongly expressed in retinal pigment epithelium cells(RPE).[3][4][5]

Function

The CTRP5 protein is a member of the C1q / tumor necrosis factor superfamily, which shows diverse functions including cell adhesion and as components of the basement membrane.[6]

Clinical significance

A mutation in the C1QTNF5 gene causes late-onset retinal degeneration.[2] More specifically, a single missense mutation (S163R) in the encoded C1QTNF5 protein causes the Late-onset retinal degeneration disease(L-ORD).[1]

Structure

The structure of C1q and Tumor Necrosis Factor Related Protein 5 (C1QTNF5) which is also called CTRP5[7] has three essential domains. The first domain is a single peptide which is located in N-terminal, the second domain is a collage domain and the third domain is a globular complementment 1q (gC1q) that exists in the C-terminal domain.[4][8][9][3] [10]The single mutation S163R is found in the gC1q domain which is the main reason for Late-onset retinal degeneration disease(L-ORD).[3][5][4][10]C1QTNF5 is a part of the C1q family. However, there is a unique feature of the structure of C1QTNF5 that it does not own a Ca 2+ binding site as other members of the C1q family.[3]

Crystal structure

Crystal structure of C1QTNF5 has been taken by  Xiongying and Krzysztof and it has two characteristics. One is that the structure of C1QTNF5 seems not to have a Ca 2+ binding site in order to its stability. Also, it is necessary for the function of the members of the C1q family. Another feature is having an unusual sequence which is (F181, F182, G183, G184, W185, P186) that generate a hydrophobic field.  In this area, S163 and F182 build H bond, However, the mutation S163 will make a disruption to the H bond.[3]

References

  1. ↑ 1.0 1.1 Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C (September 2017). "Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration". Scientific Reports. 7 (1): 12147. doi:10.1038/s41598-017-11898-3. PMC 5610255. PMID 28939808.
  2. ↑ 2.0 2.1 "Entrez Gene: C1QTNF5 C1q and tumor necrosis factor related protein 5".
  3. ↑ 3.0 3.1 3.2 3.3 3.4 Tu X, Palczewski K (December 2012). "Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration". Journal of Structural Biology. 180 (3): 439–46. doi:10.1016/j.jsb.2012.07.011. PMID 22892318.
  4. ↑ 4.0 4.1 4.2 Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, Cideciyan AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C (September 2017). "Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration". Scientific Reports. 7 (1): 12147. doi:10.1038/s41598-017-11898-3. PMID 28939808.
  5. ↑ 5.0 5.1 Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF (October 2003). "Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration". Human Molecular Genetics. 12 (20): 2657–67. doi:10.1093/hmg/ddg289. PMID 12944416.
  6. ↑ Shapiro L, Scherer PE (March 1998). "The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor". Current Biology. 8 (6): 335–8. doi:10.1016/S0960-9822(98)70133-2. PMID 9512423.
  7. ↑ Shu X, Tulloch B, Lennon A, Vlachantoni D, Zhou X, Hayward C, Wright AF (May 2006). "Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5". Human Molecular Genetics. 15 (10): 1680–9. doi:10.1093/hmg/ddl091. PMID 16600989.
  8. ↑ Mandal MN, Vasireddy V, Reddy GB, Wang X, Moroi SE, Pattnaik BR, Hughes BA, Heckenlively JR, Hitchcock PF, Jablonski MM, Ayyagari R (December 2006). "CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion". Investigative Ophthalmology & Visual Science. 47 (12): 5505–13. doi:10.1167/iovs.06-0312. PMID 17122142.
  9. ↑ Chavali VR, Khan NW, Cukras CA, Bartsch DU, Jablonski MM, Ayyagari R (May 2011). "A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration". Human Molecular Genetics. 20 (10): 2000–14. doi:10.1093/hmg/ddr080. PMID 21349921.
  10. ↑ 10.0 10.1 Dinculescu A, Min SH, Dyka FM, Deng WT, Stupay RM, Chiodo V, Smith WC, Hauswirth WW (October 2015). "Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium". Investigative Ophthalmology & Visual Science. 56 (11): 6971–80. doi:10.1167/iovs.15-17166. PMID 26513502.

Further reading

  • Shapiro L, Scherer PE (March 1998). "The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor". Current Biology. 8 (6): 335–8. doi:10.1016/S0960-9822(98)70133-2. PMID 9512423.
  • Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF (October 2003). "Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration". Human Molecular Genetics. 12 (20): 2657–67. doi:10.1093/hmg/ddg289. PMID 12944416.
  • Zhang Z, Henzel WJ (October 2004). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Science. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
  • Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA (September 2005). "Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation". Investigative Ophthalmology & Visual Science. 46 (9): 3363–71. doi:10.1167/iovs.05-0159. PMID 16123441.
  • Subrayan V, Morris B, Armbrecht AM, Wright AF, Dhillon B (December 2005). "Long anterior lens zonules in late-onset retinal degeneration (L-ORD)". American Journal of Ophthalmology. 140 (6): 1127–9. doi:10.1016/j.ajo.2005.06.023. PMID 16376663.
  • Foster LJ, Rudich A, Talior I, Patel N, Huang X, Furtado LM, Bilan PJ, Mann M, Klip A (January 2006). "Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC)". Journal of Proteome Research. 5 (1): 64–75. doi:10.1021/pr0502626. PMID 16396496.
  • Shu X, Tulloch B, Lennon A, Vlachantoni D, Zhou X, Hayward C, Wright AF (May 2006). "Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5". Human Molecular Genetics. 15 (10): 1680–9. doi:10.1093/hmg/ddl091. PMID 16600989.
  • Shu X, Tulloch B, Lennon A, Hayward C, O'Connell M, Cideciyan AV, Jacobson SG, Wright AF (2007). "Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration". Advances in Experimental Medicine and Biology. 572: 41–8. doi:10.1007/0-387-32442-9_7. PMID 17249553.

External links

Retrieved from "https://www.wikidoc.org/index.php?title=C1QTNF5&oldid=1527869"