These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 30150665)

  • 1. Perrault syndrome type 3 caused by diverse molecular defects in CLPP.
    Brodie EJ; Zhan H; Saiyed T; Truscott KN; Dougan DA
    Sci Rep; 2018 Aug; 8(1):12862. PubMed ID: 30150665
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    Hum Genet; 2020 Oct; 139(10):1325-1343. PubMed ID: 32399598
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    J Neurol Sci; 2015; 353(1-2):149-54. PubMed ID: 25956234
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    J Clin Res Pediatr Endocrinol; 2016 Dec; 8(4):472-477. PubMed ID: 27087618
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
    Lerat J; Jonard L; Loundon N; Christin-Maitre S; Lacombe D; Goizet C; Rouzier C; Van Maldergem L; Gherbi S; Garabedian EN; Bonnefont JP; Touraine P; Mosnier I; Munnich A; Denoyelle F; Marlin S
    Hum Mutat; 2016 Dec; 37(12):1354-1362. PubMed ID: 27650058
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
    Jenkinson EM; Rehman AU; Walsh T; Clayton-Smith J; Lee K; Morell RJ; Drummond MC; Khan SN; Naeem MA; Rauf B; Billington N; Schultz JM; Urquhart JE; Lee MK; Berry A; Hanley NA; Mehta S; Cilliers D; Clayton PE; Kingston H; Smith MJ; Warner TT; ; Black GC; Trump D; Davis JR; Ahmad W; Leal SM; Riazuddin S; King MC; Friedman TB; Newman WG
    Am J Hum Genet; 2013 Apr; 92(4):605-13. PubMed ID: 23541340
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Knockout Mouse Studies Show That Mitochondrial CLPP Peptidase and CLPX Unfoldase Act in Matrix Condensates near IMM, as Fast Stress Response in Protein Assemblies for Transcript Processing, Translation, and Heme Production.
    Key J; Gispert S; Auburger G
    Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927630
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the genotypic spectrum of Perrault syndrome.
    Demain LA; Urquhart JE; O'Sullivan J; Williams SG; Bhaskar SS; Jenkinson EM; Lourenco CM; Heiberg A; Pearce SH; Shalev SA; Yue WW; Mackinnon S; Munro KJ; Newbury-Ecob R; Becker K; Kim MJ; O' Keefe RT; Newman WG
    Clin Genet; 2017 Feb; 91(2):302-312. PubMed ID: 26970254
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.
    Key J; Torres-Odio S; Bach NC; Gispert S; Koepf G; Reichlmeir M; West AP; Prokisch H; Freisinger P; Newman WG; Shalev S; Sieber SA; Wittig I; Auburger G
    Cells; 2021 Nov; 10(12):. PubMed ID: 34943861
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.
    Gispert S; Parganlija D; Klinkenberg M; Dröse S; Wittig I; Mittelbronn M; Grzmil P; Koob S; Hamann A; Walter M; Büchel F; Adler T; Hrabé de Angelis M; Busch DH; Zell A; Reichert AS; Brandt U; Osiewacz HD; Jendrach M; Auburger G
    Hum Mol Genet; 2013 Dec; 22(24):4871-87. PubMed ID: 23851121
    [TBL] [Abstract][Full Text] [Related]  

  • 11. LARS2-Perrault syndrome: a new case report and literature review.
    Carminho-Rodrigues MT; Klee P; Laurent S; Guipponi M; Abramowicz M; Cao-van H; Guinand N; Paoloni-Giacobino A
    BMC Med Genet; 2020 May; 21(1):109. PubMed ID: 32423379
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling.
    Key J; Gispert S; Koepf G; Steinhoff-Wagner J; Reichlmeir M; Auburger G
    Int J Mol Sci; 2023 Dec; 24(24):. PubMed ID: 38139332
    [TBL] [Abstract][Full Text] [Related]  

  • 13. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
    Soldà G; Caccia S; Robusto M; Chiereghin C; Castorina P; Ambrosetti U; Duga S; Asselta R
    J Hum Genet; 2016 Apr; 61(4):295-300. PubMed ID: 26657938
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
    Chatzispyrou IA; Alders M; Guerrero-Castillo S; Zapata Perez R; Haagmans MA; Mouchiroud L; Koster J; Ofman R; Baas F; Waterham HR; Spelbrink JN; Auwerx J; Mannens MM; Houtkooper RH; Plomp AS
    Hum Mol Genet; 2017 Jul; 26(13):2541-2550. PubMed ID: 28449065
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Perrault syndrome: further evidence for genetic heterogeneity.
    Jenkinson EM; Clayton-Smith J; Mehta S; Bennett C; Reardon W; Green A; Pearce SH; De Michele G; Conway GS; Cilliers D; Moreton N; Davis JR; Trump D; Newman WG
    J Neurol; 2012 May; 259(5):974-6. PubMed ID: 22037954
    [No Abstract]   [Full Text] [Related]  

  • 16. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
    Morino H; Pierce SB; Matsuda Y; Walsh T; Ohsawa R; Newby M; Hiraki-Kamon K; Kuramochi M; Lee MK; Klevit RE; Martin A; Maruyama H; King MC; Kawakami H
    Neurology; 2014 Nov; 83(22):2054-61. PubMed ID: 25355836
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.
    Demain LAM; Antunes D; O'Sullivan J; Bhaskhar SS; O'Keefe RT; Newman WG
    Clin Genet; 2018 Aug; 94(2):276-277. PubMed ID: 29671881
    [No Abstract]   [Full Text] [Related]  

  • 18. A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
    Chen K; Yang K; Luo SS; Chen C; Wang Y; Wang YX; Li DK; Yang YJ; Tang YL; Liu FT; Wang J; Wu JJ; Sun YM
    BMC Med Genet; 2017 Aug; 18(1):91. PubMed ID: 28830375
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
    Pierce SB; Gersak K; Michaelson-Cohen R; Walsh T; Lee MK; Malach D; Klevit RE; King MC; Levy-Lahad E
    Am J Hum Genet; 2013 Apr; 92(4):614-20. PubMed ID: 23541342
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
    Kosaki R; Horikawa R; Fujii E; Kosaki K
    Am J Med Genet A; 2018 Feb; 176(2):404-408. PubMed ID: 29205794
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.