VPS13A: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Vacuolar protein sorting-associated protein 13A''' is a [[protein]] that in humans is encoded by the ''VPS13A'' [[gene]].<ref name="pmid9382101">{{cite journal | vauthors = Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP | title = Chorea-acanthocytosis: genetic linkage to chromosome 9q21 | journal = American Journal of Human Genetics | volume = 61 | issue = 4 | pages = 899–908 | date = Oct 1997 | pmid = 9382101 | pmc = 1715977 | doi = 10.1086/514876 }}</ref><ref name="pmid11381253">{{cite journal | vauthors = Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP | title = A conserved sorting-associated protein is mutant in chorea-acanthocytosis | journal = Nature Genetics | volume = 28 | issue = 2 | pages = 119–20 | date = Jun 2001 | pmid = 11381253 | pmc =  | doi = 10.1038/88821 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23230| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Vacuolar protein sorting 13 homolog A (S. cerevisiae)
| HGNCid = 1908
| Symbol = VPS13A
| AltSymbols =; CHAC; FLJ42030; KIAA0986
| OMIM = 605978
| ECnumber = 
| Homologene = 22068
| MGIid = 2444304
| GeneAtlas_image1 = PBB_GE_VPS13A_214785_at_tn.png
| GeneAtlas_image2 = PBB_GE_VPS13A_213686_at_tn.png
| Function = {{GNF_GO|id=GO:0005478 |text = transporter activity}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0006895 |text = Golgi to endosome transport}} {{GNF_GO|id=GO:0008104 |text = protein localization}} {{GNF_GO|id=GO:0015031 |text = protein transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 23230
    | Hs_Ensembl = ENSG00000197969
    | Hs_RefseqProtein = NP_001018047
    | Hs_RefseqmRNA = NM_001018037
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 78982181
    | Hs_GenLoc_end = 79226277
    | Hs_Uniprot = Q96RL7
    | Mm_EntrezGene = 271564
    | Mm_Ensembl = ENSMUSG00000046230
    | Mm_RefseqmRNA = NM_173028
    | Mm_RefseqProtein = NP_766616
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 16683690
    | Mm_GenLoc_end = 16847946
    | Mm_Uniprot = Q6P6M9
  }}
}}
'''Vacuolar protein sorting 13 homolog A (S. cerevisiae)''', also known as '''VPS13A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23230| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, [[chorea acanthocytosis]]. Alternative splicing of this gene results in multiple transcript variants.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.<ref name="entrez">{{cite web | title = Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23230| accessdate = }}</ref>
}}


==References==
== Model organisms ==
{{reflist|2}}
 
==Further reading==
[[Model organism]]s have been used in the study of VPS13A function. A conditional [[knockout mouse]] line called ''Vps13a<sup>tm1b(EUCOMM)Wtsi</sup>'' was generated at the [[Wellcome Trust Sanger Institute]].<ref name="mgp_reference">{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x }}</ref> Male and female animals underwent a standardized [[phenotypic screen]]<ref name="IMPCsearch_ref">{{cite web |url=http://www.mousephenotype.org/data/search?q=Vps13a#fq=*:*&facet=gene |title=International Mouse Phenotyping Consortium}}</ref> to determine the effects of deletion.<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref><ref name="pmid23870131">{{cite journal | vauthors = White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = Jul 2013 | pmid = 23870131 | pmc = 3717207 | doi = 10.1016/j.cell.2013.06.022 }}</ref> Additional screens performed:  - In-depth immunological phenotyping<ref name="iii_ref">{{cite web |url= http://www.immunophenotyping.org/data/search?keys=Vps13a&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}</ref>
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: left;" |
|+ ''Vps13a'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
|-
| colspan=2; style="text-align: center;" | All data available at.<ref name="IMPCsearch_ref"/><ref name="iii_ref" />
 
|-
| Insulin || bgcolor="#488ED3"|Normal
 
|-
| Homozygous viability at P14 || bgcolor="#488ED3"|Normal
 
|-
| Homozygous Fertility || bgcolor="#C40000"|Abnormal
 
|-
| Body weight || bgcolor="#488ED3"|Normal
 
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
 
|-
| Grip strength || bgcolor="#488ED3"|Normal
 
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
 
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
 
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
 
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
 
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
 
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
 
|-
| Eye morphology || bgcolor="#488ED3"|Normal
 
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
 
|-
| ''[[Haematology]]'' 16 Weeks || bgcolor="#488ED3"|Normal
 
|-
| Peripheral blood leukocytes 16 Weeks || bgcolor="#488ED3"|Normal
 
|-
| Heart weight || bgcolor="#488ED3"|Normal
 
|-
| Cytotoxic T Cell Function || bgcolor="#488ED3"|Normal
 
|-
| Spleen Immunophenotyping || bgcolor="#488ED3"|Normal
 
|-
| Mesenteric Lymph Node Immunophenotyping || bgcolor="#488ED3"|Normal
 
|-
| Bone Marrow Immunophenotyping || bgcolor="#488ED3"|Normal
 
|-
| Epidermal Immune Composition || bgcolor="#488ED3"|Normal
 
|-
|}
{{clear|left}}
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 6 | issue = 1 | pages = 63–70 | date = Feb 1999 | pmid = 10231032 | doi = 10.1093/dnares/6.1.63 }}
| citations =
* {{cite journal | vauthors = Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ | title = Shotgun sequencing of the human transcriptome with ORF expressed sequence tags | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 7 | pages = 3491–6 | date = Mar 2000 | pmid = 10737800 | pmc = 16267 | doi = 10.1073/pnas.97.7.3491 }}
*{{cite journal | author=Rubio JP, Danek A, Stone C, ''et al.'' |title=Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |journal=Am. J. Hum. Genet. |volume=61 |issue= 4 |pages= 899-908 |year= 1997 |pmid= 9382101 |doi=  }}
* {{cite journal | vauthors = Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A | title = The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis | journal = Nature Genetics | volume = 28 | issue = 2 | pages = 121–2 | date = Jun 2001 | pmid = 11381254 | doi = 10.1038/88825 }}
*{{cite journal  | author=Nagase T, Ishikawa K, Suyama M, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 1 |pages= 63-70 |year= 1999 |pmid= 10231032 |doi= }}
* {{cite journal | vauthors = Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP | title = Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula | journal = Movement Disorders | volume = 18 | issue = 4 | pages = 403–7 | date = Apr 2003 | pmid = 12671946 | doi = 10.1002/mds.10361 }}
*{{cite journal | author=Dias Neto E, Correa RG, Verjovski-Almeida S, ''et al.'' |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491-6 |year= 2000 |pmid= 10737800 |doi= }}
* {{cite journal | vauthors = Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW | title = Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation | journal = Nature Biotechnology | volume = 22 | issue = 6 | pages = 707–16 | date = Jun 2004 | pmid = 15146197 | doi = 10.1038/nbt971 }}
*{{cite journal  | author=Rampoldi L, Dobson-Stone C, Rubio JP, ''et al.'' |title=A conserved sorting-associated protein is mutant in chorea-acanthocytosis. |journal=Nat. Genet. |volume=28 |issue= 2 |pages= 119-20 |year= 2001 |pmid= 11381253 |doi= 10.1038/88821 }}
* {{cite journal | vauthors = Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP | title = Analysis of the human VPS13 gene family | journal = Genomics | volume = 84 | issue = 3 | pages = 536–49 | date = Sep 2004 | pmid = 15498460 | doi = 10.1016/j.ygeno.2004.04.012 }}
*{{cite journal | author=Ueno S, Maruki Y, Nakamura M, ''et al.'' |title=The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. |journal=Nat. Genet. |volume=28 |issue= 2 |pages= 121-2 |year= 2001 |pmid= 11381254 |doi= 10.1038/88825 }}
* {{cite journal | vauthors = Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP | title = Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis | journal = Neurogenetics | volume = 6 | issue = 3 | pages = 151–8 | date = Sep 2005 | pmid = 15918062 | doi = 10.1007/s10048-005-0220-9 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{cite journal  | author=Bohlega S, Al-Jishi A, Dobson-Stone C, ''et al.'' |title=Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. |journal=Mov. Disord. |volume=18 |issue= 4 |pages= 403-7 |year= 2003 |pmid= 12671946 |doi= 10.1002/mds.10361 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{cite journal  | author=Brandenberger R, Wei H, Zhang S, ''et al.'' |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707-16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971 }}
*{{cite journal | author=Humphray SJ, Oliver K, Hunt AR, ''et al.'' |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369-74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{cite journal  | author=Velayos-Baeza A, Vettori A, Copley RR, ''et al.'' |title=Analysis of the human VPS13 gene family. |journal=Genomics |volume=84 |issue= 3 |pages= 536-49 |year= 2005 |pmid= 15498460 |doi= 10.1016/j.ygeno.2004.04.012 }}
*{{cite journal | author=Dobson-Stone C, Velayos-Baeza A, Jansen A, ''et al.'' |title=Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. |journal=Neurogenetics |volume=6 |issue= 3 |pages= 151-8 |year= 2006 |pmid= 15918062 |doi= 10.1007/s10048-005-0220-9 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=chac  GeneReviews/NCBI/NIH/UW entry on Chorea-acanthocytosis]
 
 
{{gene-9-stub}}

Latest revision as of 15:38, 17 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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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

Vacuolar protein sorting-associated protein 13A is a protein that in humans is encoded by the VPS13A gene.[1][2][3]

Function

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.[3]

Model organisms

Model organisms have been used in the study of VPS13A function. A conditional knockout mouse line called Vps13atm1b(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[4] Male and female animals underwent a standardized phenotypic screen[5] to determine the effects of deletion.[6][7][8][9] Additional screens performed: - In-depth immunological phenotyping[10]

References

  1. ↑ Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP (Oct 1997). "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". American Journal of Human Genetics. 61 (4): 899–908. doi:10.1086/514876. PMC 1715977. PMID 9382101.
  2. ↑ Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP (Jun 2001). "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nature Genetics. 28 (2): 119–20. doi:10.1038/88821. PMID 11381253.
  3. ↑ 3.0 3.1 "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".
  4. ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  5. ↑ 5.0 5.1 "International Mouse Phenotyping Consortium".
  6. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  7. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  8. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  9. ↑ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  10. ↑ 10.0 10.1 "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

  • Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
  • Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
  • Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A (Jun 2001). "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis". Nature Genetics. 28 (2): 121–2. doi:10.1038/88825. PMID 11381254.
  • Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP (Apr 2003). "Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula". Movement Disorders. 18 (4): 403–7. doi:10.1002/mds.10361. PMID 12671946.
  • Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
  • Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP (Sep 2004). "Analysis of the human VPS13 gene family". Genomics. 84 (3): 536–49. doi:10.1016/j.ygeno.2004.04.012. PMID 15498460.
  • Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP (Sep 2005). "Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis". Neurogenetics. 6 (3): 151–8. doi:10.1007/s10048-005-0220-9. PMID 15918062.

External links


Retrieved from "https://www.wikidoc.org/index.php?title=VPS13A&oldid=1422654"