PubMed for id: 9197

Year	Number of Results
1993	2
1997	1
2000	1
2002	1
2003	1
2004	2
2008	1
2010	4
2011	1
2012	2
2014	1
2015	3
2016	1
2017	3
2018	2
2019	7
2020	7
2021	11
2022	10
2023	3
2024	1

1

Bindu PS, Chiplunkar S, Vandana VP, Nagappa M, Govindaraj P, Taly A. Bindu PS, et al. 2019 Jun 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Jun 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31194315 Free Books & Documents. Review.

2

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J. Huppke P, et al. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Am J Hum Genet. 2012. PMID: 22243965 Free PMC article.

3

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. Schlipf NA, et al. Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461110 Free PMC article.

4

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.

Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y. Lin P, et al. Prenat Diagn. 2010 May;30(5):485-6. doi: 10.1002/pd.2485. Prenat Diagn. 2010. PMID: 20306460 No abstract available.

5

Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1.

Romero R, Sánchez-Rivera FJ, Westcott PMK, Mercer KL, Bhutkar A, Muir A, González Robles TJ, Lamboy Rodríguez S, Liao LZ, Ng SR, Li L, Colón CI, Naranjo S, Beytagh MC, Lewis CA, Hsu PP, Bronson RT, Vander Heiden MG, Jacks T. Romero R, et al. Nat Cancer. 2020 Jun;1(6):589-602. doi: 10.1038/s43018-020-0071-1. Epub 2020 Jun 8. Nat Cancer. 2020. PMID: 34414377 Free PMC article.

6

Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation.

Hullinger R, Li M, Wang J, Peng Y, Dowell JA, Bomba-Warczak E, Mitchell HA, Burger C, Chapman ER, Denu JM, Li L, Puglielli L. Hullinger R, et al. J Exp Med. 2016 Jun 27;213(7):1267-84. doi: 10.1084/jem.20151776. Epub 2016 May 30. J Exp Med. 2016. PMID: 27242167 Free PMC article.

7

Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer.

Peng Y, Li M, Clarkson BD, Pehar M, Lao PJ, Hillmer AT, Barnhart TE, Christian BT, Mitchell HA, Bendlin BB, Sandor M, Puglielli L. Peng Y, et al. J Neurosci. 2014 May 14;34(20):6772-89. doi: 10.1523/JNEUROSCI.0077-14.2014. J Neurosci. 2014. PMID: 24828632 Free PMC article.

8

AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability.

Jonas MC, Pehar M, Puglielli L. Jonas MC, et al. J Cell Sci. 2010 Oct 1;123(Pt 19):3378-88. doi: 10.1242/jcs.068841. Epub 2010 Sep 7. J Cell Sci. 2010. PMID: 20826464 Free PMC article.

9

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y. Lin P, et al. Am J Hum Genet. 2008 Dec;83(6):752-9. doi: 10.1016/j.ajhg.2008.11.003. Am J Hum Genet. 2008. PMID: 19061983 Free PMC article.

10

The acetyl-CoA transporter family SLC33.

Hirabayashi Y, Kanamori A, Nomura KH, Nomura K. Hirabayashi Y, et al. Pflugers Arch. 2004 Feb;447(5):760-2. doi: 10.1007/s00424-003-1071-6. Epub 2003 May 9. Pflugers Arch. 2004. PMID: 12739170 Review.

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