Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

No abstract is available for this paper.

• Publication year

  2013

• Venue

  American Journal of Human Genetics

• Publication date

  2013-04-04

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ajhg.2013.02.013PMID 23541340PMCID PMC3617381
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Perrault syndrome: further evidence for genetic heterogeneity

  2012cited by this paper
• Insights into Structural Network Responsible for Oligomerization and Activity of Bacterial Virulence Regulator Caseinolytic Protease P (ClpP) Protein*

  2012cited by this paper
• Sex-Dependent Behavioral Functions of the Purkinje Cell-Specific Gαi/o Binding Protein, Pcp2(L7)

  2012cited by this paper
• Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

  2011cited by this paper
• Hereditary hearing loss: from human mutation to mechanism.

  2011cited by this paper
• Structural insights into the conformational diversity of ClpP from Bacillus subtilis

  2011cited by this paper
• Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

  2011influential reference
• Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

  2011cited by this paper
• Structures of ClpP in complex with acyldepsipeptide antibiotics reveal its activation mechanism

  2010cited by this paper
• Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

  2010influential reference
• Binding of the ClpA Unfoldase Opens the Axial Gate of ClpP Peptidase*

  2010cited by this paper
• Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

  2010cited by this paper
• Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia

  2010cited by this paper
• Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

  2010cited by this paper
• Acyldepsipeptide antibiotics induce the formation of a structured axial channel in ClpP: A model for the ClpX/ClpA-bound state of ClpP.

  2010cited by this paper
• Mutations in HPSE2 cause urofacial syndrome.

  2010cited by this paper
• Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.

  2009cited by this paper
• Sensorimotor enhancement in mouse mutants lacking the Purkinje cell-specific Gi/o modulator, Pcp2(L7).

  2009cited by this paper
• Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

  2008cited by this paper
• GeneMANIA: a real-time multiple association network integration algorithm for predicting gene function

  2008cited by this paper
• The structural basis for the activation and peptide recognition of bacterial ClpP.

  2008cited by this paper
• Insights into the inter-ring plasticity of caseinolytic proteases from the X-ray structure of Mycobacterium tuberculosis ClpP1.

  2007cited by this paper
• ClpP: A distinctive family of cylindrical energy‐dependent serine proteases

  2007cited by this paper
• Crystal structure at 1.9A of E. coli ClpP with a peptide covalently bound at the active site.

  2006cited by this paper
• G-protein alpha subunit interaction and guanine nucleotide dissociation inhibitor activity of the dual GoLoco motif protein PCP-2 (Purkinje cell protein-2).

  2006cited by this paper
• Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia

  2006cited by this paper
• Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

  2006cited by this paper
• The asymmetry in the mature amino-terminus of ClpP facilitates a local symmetry match in ClpAP and ClpXP complexes.

  2006cited by this paper
• Perrault syndrome: Evidence for progressive nervous system involvement

  2004cited by this paper
• Crystallography and mutagenesis point to an essential role for the N-terminus of human mitochondrial ClpP.

  2004cited by this paper
• Conservation of the developmentally regulated dendritic localization of a Purkinje cell-specific mRNA that encodes a G-protein modulator: comparison of rodent and human Pcp2(L7) gene structure and expression.

  2002cited by this paper
• Molecular determinants of complex formation between Clp/Hsp100 ATPases and the ClpP peptidase

  2001cited by this paper
• Mitochondrial morphology in human fetal and adult female germ cells.

  2000cited by this paper
• The Online London Dysmorphology Database

  1999cited by this paper
• Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

  1998cited by this paper
• The structure of ClpP at 2.3 A resolution suggests a model for ATP-dependent proteolysis.

  1997cited by this paper
• Neurologic anomalies of Perrault syndrome.

  1996cited by this paper
• Scanning transmission electron microscopy and small-angle scattering provide evidence that native Escherichia coli ClpP is a tetradecamer with an axial pore.

  1995cited by this paper
• Human ClpP protease: cDNA sequence, tissue‐specific expression and chromosomal assignment of the gene

  1995cited by this paper
• Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?

  1994cited by this paper
• Development of gerbil outer hair cells after the onset of cochlear function: an ultrastructural study.

  1994cited by this paper
• Isolation and characterization of ClpX, a new ATP-dependent specificity component of the Clp protease of Escherichia coli.

  1993cited by this paper
• The small subunit of transcription factor IIF recruits RNA polymerase II into the preinitiation complex.

  1991cited by this paper
• [Two cases of Turner syndrome with deaf-mutism in two sisters].

  1951cited by this paper

• A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

  2026cites this paper
• The 13th International Symposium on Heat Shock Proteins in Biology, Medicine and the Environment: Honoring Legacy, Celebrating Scientific Advances, and Fostering Collaboration.

  2026cites this paper
• Molecular mechanisms of mitochondrial AAA+ proteases.

  2026cites this paper
• From Biogenesis to Breakdown: How Protein Biogenesis and Quality Control Failures Drive Mitochondrial Disease

  2025cites this paper
• Organellar crosstalk as a potential therapeutic target for rare neurodegenerative diseases

  2025cites this paper
• Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease

  2025cites this paper
• CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study

  2025cites this paper
• A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations

  2025cites this paper
• Transcriptomic landscape of cumulus cells from patients <38 years old with a history of poor ovarian response (POR) treated with platelet-rich plasma (PRP)

  2025cites this paper
• Therapeutic potential of melatonin-induced mitophagy in the pathogenesis of Alzheimer’s disease

  2025cites this paper
• Update zur Prämaturen Ovarialinsuffizienz – welche genetischen Ursachen sind bekannt

  2025cites this paper
• Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review

  2025cites this paper
• The mitochondrial protease ClpP is a metabolic vulnerability and an immunogenic trigger against multiple myeloma.

  2025cites this paper
• Mitochondrial diseases: from molecular mechanisms to therapeutic advances

  2025cites this paper
• Endocrine Dysfunction in Primary Mitochondrial Diseases

  2025cites this paper
• Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss

  2025cites this paper
• Epidemiology, genetic etiology and intervention of premature ovarian insufficiency.

  2025cites this paper
• Identification of a Novel CLPX Variant in a Mixed-Breed Dog with Anemia and Spinocerebellar Ataxia

  2025cites this paper
• Role of Mitochondrial Dysfunctions in Neurodegenerative Disorders: Advances in Mitochondrial Biology

  2024cites this paper
• Mitochondrial proteases modulate mitochondrial stress signalling and cellular homeostasis in health and disease.

  2024cites this paper
• CLPP-Null Eukaryotes with Excess Heme Biosynthesis Show Reduced L-arginine Levels, Probably via CLPX-Mediated OAT Activation

  2024cites this paper
• Differential alternative splicing landscape identifies potentially functional RNA binding proteins in early embryonic development in mammals

  2024cites this paper
• Evaluation and diagnostic approach in patient with Perrault Syndrome

  2024cites this paper
• A Consolidated Understanding of the Contribution of Redox Dysregulation in the Development of Hearing Impairment

  2024cites this paper
• Perrault syndrome: a forgotten presentation for infertile women

  2024cites this paper
• Mechanisms of mitochondrial dysfunction in ovarian aging and potential interventions

  2024cites this paper
• Mitochondrial DNA release and sensing in innate immune responses.

  2024cites this paper
• Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis

  2024cites this paper
• Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

  2024cites this paper
• A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.

  2024cites this paper
• Mechanism of allosteric activation in human mitochondrial ClpP protease

  2024cites this paper
• Oocyte Health and Quality: Implication of Mitochondria-related Organelle Interactions.

  2024cites this paper
• 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

  2024cites this paper
• Perrault syndrome: The Way Forward After Genetic Counselling?

  2024cites this paper
• Patenting perspective of modulators of ClpP endopeptidase: 2019-present

  2024cites this paper
• Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.

  2024cites this paper
• A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families

  2023cites this paper
• GTPase Era at the heart of ribosome assembly

  2023cites this paper
• Regionalized protein localization domains in the hair cell kinocilium.

  2023cites this paper
• Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.

  2023cites this paper
• Regionalized Protein Localization Domains in the Zebrafish Hair Cell Kinocilium

  2023cites this paper
• Targeting Mitochondria with ClpP Agonists as a Novel Therapeutic Opportunity in Breast Cancer

  2023cites this paper
• CLPP inhibition triggers apoptosis in human ovarian granulosa cells via COX5A abnormality–Mediated mitochondrial dysfunction

  2023influential citation
• Proteolytic rewiring of mitochondria by LONP1 directs cell identity switching of adipocytes

  2023cites this paper
• Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

  2023cites this paper
• Intraneuronal β-amyloid impaired mitochondrial proteostasis through the impact on LONP1

  2023cites this paper
• Mitochondrial stress response gene Clpp deficiency impairs oocyte competence and deteriorate cyclophosphamide-induced ovarian damage in young mice

  2023cites this paper
• Molecular analysis of Brevibacillus brevis as polyethylene biodegradation agents

  2023cites this paper
• Mitochondrial AAA+ proteases.

  2023cites this paper
• Complexome Profiling—Exploring Mitochondrial Protein Complexes in Health and Disease

  2022cites this paper
• A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature

  2022cites this paper
• Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

  2022cites this paper
• PGPM_A_341172 1..8

  2022cites this paper
• CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2

  2022cites this paper
• Plasticidade mitocondrial na doença de Chagas

  2022cites this paper
• LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

  2022cites this paper
• Autophagy‐independent mitochondrial quality control: Mechanisms and disease associations

  2022cites this paper
• AAA+ proteases: the first line of defense against mitochondrial damage

  2022cites this paper
• ARNSHL gene identification: past, present and future

  2022cites this paper
• The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes

  2022influential citation
• Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

  2022cites this paper
• Role of Mitochondrial Stress Response in Cancer Progression

  2022cites this paper
• Disorders of Mitochondrial Homeostasis, Dynamics, Protein Import, and Quality Control

  2022cites this paper
• Mitochondrial ATP-Dependent Proteases—Biological Function and Potential Anti-Cancer Targets

  2021cites this paper
• Premature Ovarian Insufficiency: Past, Present, and Future

  2021cites this paper
• Mitochondrial Chaperones and Proteases in Cardiomyocytes and Heart Failure

  2021cites this paper
• Quality control of the mitochondrion.

  2021cites this paper
• Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI)

  2021cites this paper
• Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

  2021cites this paper
• Carrying Excess Baggage Can Slowdown Life: Protein Clearance Machineries That Go Awry During Aging and the Relevance of Maintaining Them

  2021cites this paper
• Mitochondrial matrix proteases: quality control and beyond

  2021cites this paper
• Loss of Mitochondrial Protease CLPP Activates Type I IFN Responses through the Mitochondrial DNA–cGAS–STING Signaling Axis

  2021cites this paper
• A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

  2021cites this paper
• Mitochondrial proteases in human diseases

  2021cites this paper
• Substrates and interactors of the ClpP protease in the mitochondria.

  2021cites this paper
• Movement Disorders Associated with Hypogonadism

  2021cites this paper
• Human ClpP protease, a promising therapy target for diseases of mitochondrial dysfunction.

  2021cites this paper
• Endocrine Manifestations and New Developments in Mitochondrial Disease

  2021cites this paper
• Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

  2021cites this paper
• Protecting the future: balancing proteostasis for reproduction.

  2021cites this paper
• Mitochondrial HSP70 Chaperone System—The Influence of Post-Translational Modifications and Involvement in Human Diseases

  2021cites this paper
• New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

  2021cites this paper
• Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.

  2021cites this paper
• Prominent Increases of Nuclear DNAJA3and Cytosolic STAT1 with Nucleic Acid Sensors Underlie Innate Immunity Activation in ClpP-null Mouse

  2021cites this paper
• The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover

  2021cites this paper
• Reprogramming of the Caseinolytic Protease by ADEP Antibiotics: Molecular Mechanism, Cellular Consequences, Therapeutic Potential

  2021cites this paper
• Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

  2021cites this paper
• Genes Regulating Spermatogenesis and Sperm Function Associated With Rare Disorders

  2021cites this paper
• Role of GTPases in Driving Mitoribosome Assembly.

  2021cites this paper
• Molecular genetic landscape of hereditary hearing loss in Pakistan

  2021cites this paper
• Quality control of the mitochondrial proteome

  2020cites this paper
• Mitochondrial Stress Response Gene Clpp Is Not Required for Granulosa Cell Function

  2020cites this paper
• A Proteolytic Site‐Directed Affinity Label to Inhibit the Human ATP‐Dependent Protease Caseinolytic Complex XP

  2020cites this paper
• ClpP regulates breast cancer cell proliferation, invasion and apoptosis by modulating the Src/PI3K/Akt signaling pathway

  2020cites this paper
• Perrault syndrome

  2020cites this paper
• Studies on Function of Human Mitochondrial Proteases LONP1 and ClpP in Metabolic Reprogramming of Cancer

  2020cites this paper
• Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

  2020cites this paper
• An inventory of interactors of the human HSP60/HSP10 chaperonin in the mitochondrial matrix space

  2020cites this paper
• Mitochondrial ClpP serine protease-biological function and emerging target for cancer therapy

  2020cites this paper
• CLPX regulates erythroid heme synthesis by control of mitochondrial heme synthesis enzymes and iron utilization

  2020cites this paper