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Select item 51980081.

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

Fatma Dursun, Hussein Sheikh Ali Mohamoud, Noreen Karim, Muhammad Naeem, Musharraf Jelani, Heves Kırmızıbekmez

J Clin Res Pediatr Endocrinol. 2016 Dec; 8(4): 472–477. Published online 2016 Dec 1. doi: 10.4274/jcrpe.2717

PMCID:: PMC5198008

Abstract Article PDF–424K

Select item 84262492.

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

Antonia Maletzko, Jana Key, Ilka Wittig, Suzana Gispert, Gabriele Koepf, Júlia Canet-Pons, Sylvia Torres-Odio, A. Phillip West, Georg Auburger

Neurogenetics. 2021; 22(4): 297–312. Published online 2021 Aug 3. doi: 10.1007/s10048-021-00657-2

PMCID:: PMC8426249

Abstract Article PDF–3.3M

Select item 61107813.

Perrault syndrome type 3 caused by diverse molecular defects in CLPP

Erica J. Brodie, Hanmiao Zhan, Tamanna Saiyed, Kaye N. Truscott, David A. Dougan

Sci Rep. 2018; 8: 12862. Published online 2018 Aug 27. doi: 10.1038/s41598-018-30311-1

PMCID:: PMC6110781

Abstract Article PDF–2.0M

Select item 86991194.

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Jana Key, Sylvia Torres-Odio, Nina C. Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A. Phillip West, Holger Prokisch, Peter Freisinger, William G. Newman, Stavit Shalev, Stephan A. Sieber, Ilka Wittig, Georg Auburger

Cells. 2021 Dec; 10(12): 3354. Published online 2021 Nov 29. doi: 10.3390/cells10123354

PMCID:: PMC8699119

Abstract Article PDF–31M

Select item 86285735.

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

Francesca Forli, Luca Bruschini, Beatrice Franciosi, Roberta Battini, Gemma Marinella, Stefano Berrettini, Francesco Lazzerini

Audiol Res. 2021 Dec; 11(4): 609–617. Published online 2021 Nov 13. doi: 10.3390/audiolres11040055

PMCID:: PMC8628573

Abstract Article PDF–974K

Select item 51105156.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tom E. J. Theunissen, Radek Szklarczyk, Mike Gerards, Debby M. E. I. Hellebrekers, Elvira N. M. Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S. Lane Rutledge, Thomas Schmitt-Mechelke, Carola G. M. van Berkel, Marjo S. van der Knaap, Irenaeus F. M. de Coo, Hubert J. M. Smeets

Front Neurol. 2016; 7: 203. Published online 2016 Nov 16. doi: 10.3389/fneur.2016.00203

PMCID:: PMC5110515

Abstract Article PDF–1.4M

Select item 107434727.

Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling

Jana Key, Suzana Gispert, Gabriele Koepf, Julia Steinhoff-Wagner, Marina Reichlmeir, Georg Auburger

Int J Mol Sci. 2023 Dec; 24(24): 17503. Published online 2023 Dec 15. doi: 10.3390/ijms242417503

PMCID:: PMC10743472

Abstract Article PDF–6.8M

Select item 106266758.

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz, Vamshi K. Rao

BMC Med Genomics. 2023; 16: 278. Published online 2023 Nov 6. doi: 10.1186/s12920-023-01599-4

PMCID:: PMC10626675

Abstract Article PDF–809K

Select item 98182309.

CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2

Jana Key, Suzana Gispert, Lieke Koornneef, Esther Sleddens-Linkels, Aneesha Kohli, Sylvia Torres-Odio, Gabriele Koepf, Shady Amr, Marina Reichlmeir, Patrick N. Harter, Andrew Phillip West, Christian Münch, Willy M. Baarends, Georg Auburger

Cells. 2023 Jan; 12(1): 52. Published online 2022 Dec 22. doi: 10.3390/cells12010052

PMCID:: PMC9818230

Abstract Article PDF–3.4M

Select item 802670710.

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

Sylvia Torres-Odio, Yuanjiu Lei, Suzana Gispert, Antonia Maletzko, Jana Key, Saeed S. Menissy, Ilka Wittig, Georg Auburger, A. Phillip West

J Immunol. Author manuscript; available in PMC 2022 Apr 15.

Published in final edited form as: J Immunol. 2021 Apr 15; 206(8): 1890–1900. Published online 2021 Mar 17. doi: 10.4049/jimmunol.2001016

PMCID:: PMC8026707

Abstract Article PDF–2.4M

Select item 750012811.

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

Leigh A. M. Demain, Erica. H. Gerkes, Richard J. H. Smith, Leslie P. Molina-Ramirez, Raymond T. O’Keefe, William G. Newman

J Hum Genet. 2020; 65(3): 305–311. Published online 2019 Dec 12. doi: 10.1038/s10038-019-0706-1

PMCID:: PMC7500128

Abstract Article PDF–1.5M

Select item 728320312.

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

Jana Key, Antonia Maletzko, Aneesha Kohli, Suzana Gispert, Sylvia Torres-Odio, Ilka Wittig, Juliana Heidler, Clea Bárcena, Carlos López-Otín, Yuanjiu Lei, A. Phillip West, Christian Münch, Georg Auburger

Neurogenetics. 2020; 21(3): 187–203. Published online 2020 Apr 28. doi: 10.1007/s10048-020-00609-2

PMCID:: PMC7283203

Abstract Article PDF–1.2M

Select item 711065413.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

Abstract Article PDF–727K

Select item 638908114.

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi

BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9

PMCID:: PMC6389081

Abstract Article PDF–1.3M

Select item 573593615.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Abstract Article PDF–1.1M

Select item 529968416.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński

J Transl Med. 2017; 15: 25. Published online 2017 Feb 8. doi: 10.1186/s12967-017-1129-4

PMCID:: PMC5299684

Abstract Article PDF–3.4M

Select item 513651517.

Unresolved questions regarding human hereditary deafness

AU Rehman, TB Friedman, AJ Griffith

Oral Dis. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Oral Dis. 2017 Jul; 23(5): 551–558. Published online 2016 Jul 11. doi: 10.1111/odi.12516

PMCID:: PMC5136515

Abstract Article PDF–563K

Select item 481721818.

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

Giulia Soldà, Sonia Caccia, Michela Robusto, Chiara Chiereghin, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta

J Hum Genet. Author manuscript; available in PMC 2016 Sep 22.

Published in final edited form as: J Hum Genet. 2016 Apr; 61(4): 295–300. Published online 2015 Dec 10. doi: 10.1038/jhg.2015.149

PMCID:: PMC4817218

Abstract Article PDF–1.0M

Select item 449385419.

Spectrum of combined respiratory chain defects

Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz A. Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl

J Inherit Metab Dis. 2015; 38(4): 629–640. Published online 2015 Mar 17. doi: 10.1007/s10545-015-9831-y

PMCID:: PMC4493854

Abstract Article PDF–1006K

Select item 424845120.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, Ming K. Lee, Rachel E. Klevit, Alan Martin, Hirofumi Maruyama, Mary-Claire King, Hideshi Kawakami

Neurology. 2014 Nov 25; 83(22): 2054–2061. doi: 10.1212/WNL.0000000000001036