PubMed for id: 814744

Year	Number of Results
1979	1
1988	1
2011	1
2013	1
2014	3
2015	5
2016	8
2017	6
2018	3
2019	2
2020	5
2021	4
2022	2
2023	0

1

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H. Dursun F, et al. J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):472-477. doi: 10.4274/jcrpe.2717. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27087618 Free PMC article.

2

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY. Ahmed S, et al. J Neurol Sci. 2015;353(1-2):149-54. doi: 10.1016/j.jns.2015.04.038. Epub 2015 May 1. J Neurol Sci. 2015. PMID: 25956234

3

Perrault syndrome type 3 caused by diverse molecular defects in CLPP.

Brodie EJ, Zhan H, Saiyed T, Truscott KN, Dougan DA. Brodie EJ, et al. Sci Rep. 2018 Aug 27;8(1):12862. doi: 10.1038/s41598-018-30311-1. Sci Rep. 2018. PMID: 30150665 Free PMC article.

4

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.

Forli F, Bruschini L, Franciosi B, Battini R, Marinella G, Berrettini S, Lazzerini F. Forli F, et al. Audiol Res. 2021 Nov 13;11(4):609-617. doi: 10.3390/audiolres11040055. Audiol Res. 2021. PMID: 34842607 Free PMC article.

5

Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse.

Maletzko A, Key J, Wittig I, Gispert S, Koepf G, Canet-Pons J, Torres-Odio S, West AP, Auburger G. Maletzko A, et al. Neurogenetics. 2021 Oct;22(4):297-312. doi: 10.1007/s10048-021-00657-2. Epub 2021 Aug 3. Neurogenetics. 2021. PMID: 34345994 Free PMC article.

6

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ. Theunissen TE, et al. Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016. Front Neurol. 2016. PMID: 27899912 Free PMC article.

7

Primary ovarian insufficiency in RMND1 mitochondrial disease.

Boros E, Elilié Mawa Ongoth F, Heinrichs C, Mansbach AL, Seneca S, Aeby A, Ismaïli K, Brachet C. Boros E, et al. Mitochondrion. 2022 Sep;66:51-53. doi: 10.1016/j.mito.2022.07.004. Epub 2022 Jul 25. Mitochondrion. 2022. PMID: 35901949

8

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Faridi R, Rea A, Fenollar-Ferrer C, O'Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB. Faridi R, et al. Hum Genet. 2022 Apr;141(3-4):805-819. doi: 10.1007/s00439-021-02319-7. Epub 2021 Aug 2. Hum Genet. 2022. PMID: 34338890 Review.

9

Loss of Mitochondrial Protease CLPP Activates Type I IFN Responses through the Mitochondrial DNA-cGAS-STING Signaling Axis.

Torres-Odio S, Lei Y, Gispert S, Maletzko A, Key J, Menissy SS, Wittig I, Auburger G, West AP. Torres-Odio S, et al. J Immunol. 2021 Apr 15;206(8):1890-1900. doi: 10.4049/jimmunol.2001016. Epub 2021 Mar 17. J Immunol. 2021. PMID: 33731338 Free PMC article.

10

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598

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