Mitochondrial Processing Peptidases—Structure, Function and the Role in Human Diseases

Highly accurate protein structure prediction with AlphaFold

(2021) John Jumper et al.   NATURE

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells

(2021) Juliette Pulman et al.   MOLECULAR GENETICS AND METABOLISM

AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models

(2021) Mihaly Varadi et al.   NUCLEIC ACIDS RESEARCH

PARL Protease: A Glimpse at Intramembrane Proteolysis in the Inner Mitochondrial Membrane

(2020) Laine Lysyk et al.   JOURNAL OF MOLECULAR BIOLOGY

Functional coupling of presequence processing and degradation in human mitochondria

(2020) Cansu Kücükköse et al.   FEBS Journal

More than just a ticket canceller: The mitochondrial processing peptidase tailors complex precursor proteins at internal cleavage sites

(2020) Jana Friedl et al.   MOLECULAR BIOLOGY OF THE CELL

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

(2020) Yoko Takahashi et al.   BRAIN & DEVELOPMENT

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

(2019) Anna Rubegni et al.   NEUROLOGY

Disease-Associated Genetic Variation in Human Mitochondrial Protein Import

(2019) Emmanuelle Nicolas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial presequence import: Multiple regulatory knobs fine-tune mitochondrial biogenesis and homeostasis

(2019) Cyril Moulin et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mechanism of frataxin “bypass” in human iron-sulfur cluster biosynthesis with implications for Friedreich’s ataxia

(2019) Deepika Das et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PMPCB Silencing Sensitizes HCC Tumor Cells to Sorafenib Therapy

(2019) Jian-feng Zheng et al.   MOLECULAR THERAPY

A Unique SUMO-Interacting Motif of Trx2 Is Critical for Its Mitochondrial Presequence Processing and Anti-oxidant Activity

(2019) Chaofei Chen et al.   Frontiers in Physiology

Race-specific alterations in DNA methylation among middle-aged African Americans and Whites with metabolic syndrome

(2019) Kumaraswamy Naidu Chitrala et al.   Epigenetics

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

(2018) F.-Nora Vögtle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Switching off IMMP2L signaling drives senescence via simultaneous metabolic alteration and blockage of cell death

(2018) Lifeng Yuan et al.   CELL RESEARCH

PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria

(2018) Shotaro Saita et al.   EMBO JOURNAL

Site-specific characterization of endogenous SUMOylation across species and organs

(2018) Ivo A. Hendriks et al.   Nature Communications

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

(2018) Kyle Thompson et al.   EMBO Molecular Medicine

Pathways to balance mitochondrial translation and protein import

(2018) Chantal Priesnitz et al.   GENES & DEVELOPMENT

PARL paves the way to apoptosis

(2017) Naotada Ishihara et al.   NATURE CELL BIOLOGY

PARL mediates Smac proteolytic maturation in mitochondria to promote apoptosis

(2017) Shotaro Saita et al.   NATURE CELL BIOLOGY

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation

(2017) Ivo A Hendriks et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation

(2017) Ivo A Hendriks et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Dynamic organization of the mitochondrial protein import machinery

(2016) Sebastian P. Straub et al.   BIOLOGICAL CHEMISTRY

The versatility of the mitochondrial presequence processing machinery: cleavage, quality control and turnover

(2016) Daniel Poveda-Huertes et al.   CELL AND TISSUE RESEARCH

Mutation analyses and association studies to assess the role of the presenilin-associated rhomboid-like gene in Parkinson's disease

(2016) Richard Wüst et al.   NEUROBIOLOGY OF AGING

PARL: The mitochondrial rhomboid protease

(2016) Marco Spinazzi et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

(2016) Mohammad K. Eldomery et al.   Genome Medicine

TheImmp2lmutation causes age-dependent degeneration of cerebellar granule neurons prevented by antioxidant treatment

(2015) Chunlian Liu et al.   AGING CELL

Genome-wide association study of schizophrenia in Ashkenazi Jews

(2015) Fernando S. Goes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Autosomal recessive cerebellar ataxia caused by a homozygous mutation inPMPCA

(2015) Karine Choquet et al.   BRAIN

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

(2015) Rebekah K. Jobling et al.   BRAIN

Friedreich Ataxia

(2015) Srinivasan Muthuswamy et al.   NEUROLOGIST

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

Molecular architecture of the active mitochondrial protein gate

(2015) T. Shiota et al.   SCIENCE

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

(2014) Birgitte Bertelsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population

(2014) Shuang Liang et al.   Journal of Zhejiang University-SCIENCE B

In vivo RNAi screening identifies a mechanism of sorafenib resistance in liver cancer

(2014) Ramona Rudalska et al.   NATURE MEDICINE

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

(2014) Stefania Gimelli et al.   Molecular Cytogenetics

Examination of bioenergetic function in the inner mitochondrial membrane peptidase 2-like (Immp2l) mutant mice

(2014) Manish S. Bharadwaj et al.   Redox Biology

PINK1 is degraded through the N-end rule pathway

(2013) Koji Yamano et al.   Autophagy

Five markers useful for the distinction of canine mammary malignancy

(2013) Karol M Pawłowski et al.   BMC Veterinary Research

The Role of Parl and HtrA2 in Striatal Neuronal Injury After Transient Global Cerebral Ischemia

(2013) Hideyuki Yoshioka et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

A Computational Study of the Glycine-Rich Loop of Mitochondrial Processing Peptidase

(2013) Tomáš Kučera et al.   PLoS One

The role of nitric oxide signaling in food intake; insights from the inner mitochondrial membrane peptidase 2 mutant mice

(2013) Changjie Han et al.   Redox Biology

The mitochondrial protein import machinery has multiple connections to the respiratory chain

(2012) Bogusz Kulawiak et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Chaperone–protease networks in mitochondrial protein homeostasis

(2012) Wolfgang Voos   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mitochondria-Related Gene Expression Changes Are Associated With Fatigue in Patients With Nonmetastatic Prostate Cancer Receiving External Beam Radiation Therapy

(2012) Chao-Pin Hsiao et al.   CANCER NURSING

Analysis of Copy Number Variation in Alzheimer’s Disease: The NIALOAD/ NCRAD Family Study

(2012) Shanker Swaminathan et al.   Current Alzheimer Research

Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment

(2012) Andrew W Greene et al.   EMBO REPORTS

Rhomboid Protease PARL Mediates the Mitochondrial Membrane Potential Loss-induced Cleavage of PGAM5

(2012) Shiori Sekine et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial peptidase IMMP2L mutation causes early onset of age-associated disorders and impairs adult stem cell self-renewal

(2011) Sunil K. George et al.   AGING CELL

Structural and mechanistic basis of Parl activity and regulation

(2011) D V Jeyaraju et al.   CELL DEATH AND DIFFERENTIATION

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

(2011) Guang Shi et al.   HUMAN MOLECULAR GENETICS

Mitochondrial DNA mutations in disease and aging

(2011) Chan Bae Park et al.   JOURNAL OF CELL BIOLOGY

The mitochondrial intramembrane protease PARL cleaves human Pink1 to regulate Pink1 trafficking

(2011) Cathrin Meissner et al.   JOURNAL OF NEUROCHEMISTRY

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease

(2011) Sascha Heinitz et al.   MOVEMENT DISORDERS

Deficiency in the inner mitochondrial membrane peptidase 2-like (Immp21) gene increases ischemic brain damage and impairs mitochondrial function

(2011) Yi Ma et al.   NEUROBIOLOGY OF DISEASE

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities

(2010) Renata Santos et al.   ANTIOXIDANTS & REDOX SIGNALING

Regulation of Skeletal Muscle Oxidative Capacity and Insulin Signaling by the Mitochondrial Rhomboid Protease PARL

(2010) Anthony E. Civitarese et al.   Cell Metabolism

PINK1 cleavage at position A103 by the mitochondrial protease PARL

(2010) Emma Deas et al.   HUMAN MOLECULAR GENETICS

Mitochondrial membrane potential regulates PINK1 import and proteolytic destabilization by PARL

(2010) Seok Min Jin et al.   JOURNAL OF CELL BIOLOGY

Glycine-Rich Loop of Mitochondrial Processing Peptidase α-Subunit Is Responsible for Substrate Recognition by a Mechanism Analogous to Mitochondrial Receptor Tom20

(2010) Klára Dvořáková-Holá et al.   JOURNAL OF MOLECULAR BIOLOGY

Importing Mitochondrial Proteins: Machineries and Mechanisms

(2009) Agnieszka Chacinska et al.   CELL

The Leu262Val polymorphism of presenilin associated rhomboid like protein (PARL) is associated with earlier onset of type 2 diabetes and increased urinary microalbumin creatinine ratio in an Irish case–control population

(2009) M. Hatunic et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

Reversible oxidation of mitochondrial peroxiredoxin 3 in mouse heart subjected to ischemia and reperfusion

(2009) Vikas Kumar et al.   FEBS LETTERS

Bladder Dysfunction in a New Mutant Mouse Model With Increased Superoxide—Lack of Nitric Oxide?

(2009) Roberto Soler et al.   JOURNAL OF UROLOGY

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

(2009) E Maestrini et al.   MOLECULAR PSYCHIATRY

Rhomboid Proteases and their Biological Functions

(2008) Matthew Freeman   Annual Review of Genetics

Sorting and assembly of mitochondrial outer membrane proteins

(2008) Thomas Becker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

(2008) Jyh-Rong Chao et al.   NATURE

A Mutation in the Inner Mitochondrial Membrane Peptidase 2-Like Gene (Immp2l) Affects Mitochondrial Function and Impairs Fertility in Mice1

(2007) Baisong Lu et al.   BIOLOGY OF REPRODUCTION