m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration

Systematic Identification of MCU Modulators by Orthogonal Interspecies Chemical Screening

(2017) Daniela M. Arduino et al.   MOLECULAR CELL

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

(2017) Terrence F Meehan et al.   NATURE GENETICS

Proteolytic control of the mitochondrial calcium uniporter complex

(2017) Chen-Wei Tsai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tissue-Specific Mitochondrial Decoding of Cytoplasmic Ca 2+ Signals Is Controlled by the Stoichiometry of MICU1/2 and MCU

(2017) Melanie Paillard et al.   Cell Reports

Structure, Activity Regulation, and Role of the Mitochondrial Calcium Uniporter in Health and Disease

(2017) Cristina Mammucari et al.   Frontiers in Oncology

OPA1 processing in cell death and disease – the long and short of it

(2016) Thomas MacVicar et al.   JOURNAL OF CELL SCIENCE

The m -AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria

(2016) Tim König et al.   MOLECULAR CELL

MICU1 Serves as a Molecular Gatekeeper to Prevent In Vivo Mitochondrial Calcium Overload

(2016) Julia C. Liu et al.   Cell Reports

The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying

(2016) Shuaiyu Wang et al.   PLoS Genetics

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

(2015) Kevin A. Strauss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Protein Quality Control: The Mechanisms Guarding Mitochondrial Health

(2015) Iryna Bohovych et al.   ANTIOXIDANTS & REDOX SIGNALING

Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness

(2015) Uwe Richter et al.   JOURNAL OF CELL BIOLOGY

SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore

(2015) Santhanam Shanmughapriya et al.   MOLECULAR CELL

New roles for mitochondrial proteases in health, ageing and disease

(2015) Pedro M. Quirós et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Mitochondrial Permeability Transition Pore: Channel Formation by F-ATP Synthase, Integration in Signal Transduction, and Role in Pathophysiology

(2015) Paolo Bernardi et al.   PHYSIOLOGICAL REVIEWS

Loss of the m-AAA protease subunit AFG3L2 causes mitochondrial transport defects and tau hyperphosphorylation

(2014) A. K. Kondadi et al.   EMBO JOURNAL

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

Thei-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission

(2014) Ruchika Anand et al.   JOURNAL OF CELL BIOLOGY

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

(2014) Francesca Maltecca et al.   JOURNAL OF CLINICAL INVESTIGATION

MICU1 and MICU2 Finely Tune the Mitochondrial Ca2+ Uniporter by Exerting Opposite Effects on MCU Activity

(2014) Maria Patron et al.   MOLECULAR CELL

Reconstitution of the mitochondrial calcium uniporter in yeast

(2014) E. Kovacs-Bogdan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MICU1 Controls Both the Threshold and Cooperative Activation of the Mitochondrial Ca2+ Uniporter

(2013) György Csordás et al.   Cell Metabolism

The mitochondrial calcium uniporter is a multimer that can include a dominant-negative pore-forming subunit

(2013) Anna Raffaello et al.   EMBO JOURNAL

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

(2013) Clare V Logan et al.   NATURE GENETICS

MICU2, a Paralog of MICU1, Resides within the Mitochondrial Uniporter Complex to Regulate Calcium Handling

(2013) Molly Plovanich et al.   PLoS One

EMRE Is an Essential Component of the Mitochondrial Calcium Uniporter Complex

(2013) Y. Sancak et al.   SCIENCE

MICU1 Is an Essential Gatekeeper for MCU-Mediated Mitochondrial Ca2+ Uptake that Regulates Cell Survival

(2012) Karthik Mallilankaraman et al.   CELL

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

(2012) Hue-Tran Hornig-Do et al.   EMBO JOURNAL

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

(2012) F. Maltecca et al.   HUMAN MOLECULAR GENETICS

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

(2012) Eva R. Almajan et al.   JOURNAL OF CLINICAL INVESTIGATION

The mammalian gene function resource: the international knockout mouse consortium

(2012) Allan Bradley et al.   MAMMALIAN GENOME

Mitochondria as sensors and regulators of calcium signalling

(2012) Rosario Rizzuto et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mitochondrial AAA proteases — Towards a molecular understanding of membrane-bound proteolytic machines

(2011) Florian Gerdes et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Presequence-dependent folding ensures MrpL32 processing by them-AAA protease in mitochondria

(2011) Florian Bonn et al.   EMBO JOURNAL

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

(2011) Guang Shi et al.   HUMAN MOLECULAR GENETICS

Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter

(2011) Joshua M. Baughman et al.   NATURE

A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter

(2011) Diego De Stefani et al.   NATURE

HTRA proteases: regulated proteolysis in protein quality control

(2011) Tim Clausen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

(2011) Tyler Mark Pierson et al.   PLoS Genetics

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias

(2010) Adebimpe Kasumu et al.   CEREBELLUM

Electron Cryomicroscopy Structure of a Membrane-anchored Mitochondrial AAA Protease

(2010) Sukyeong Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

(2010) John F. O’Toole et al.   JOURNAL OF CLINICAL INVESTIGATION

MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake

(2010) Fabiana Perocchi et al.   NATURE

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Genetic interaction between the m -AAA protease isoenzymes reveals novel roles in cerebellar degeneration

(2009) Paola Martinelli et al.   HUMAN MOLECULAR GENETICS

Regulation of OPA1 processing and mitochondrial fusion bym-AAA protease isoenzymes and OMA1

(2009) Sarah Ehses et al.   JOURNAL OF CELL BIOLOGY

Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells

(2009) Brian Head et al.   JOURNAL OF CELL BIOLOGY

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

(2009) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE

An Intersubunit Signaling Network Coordinates ATP Hydrolysis by m-AAA Proteases

(2009) Steffen Augustin et al.   MOLECULAR CELL

Novel Mitochondrial Substrates of Omi Indicate a New Regulatory Role in Neurodegenerative Disorders

(2009) Felicity Johnson et al.   PLoS One

The reducible complexity of a mitochondrial molecular machine

(2009) A. Clements et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

(2008) Antoni Matilla-Dueñas et al.   CEREBELLUM

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM

Quality control of mitochondria: protection against neurodegeneration and ageing

(2008) Takashi Tatsuta et al.   EMBO JOURNAL

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

(2008) J. Simon-Sanchez et al.   HUMAN MOLECULAR GENETICS

Mechanism of Ceftriaxone Induction of Excitatory Amino Acid Transporter-2 Expression and Glutamate Uptake in Primary Human Astrocytes

(2008) Seok-Geun Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development

(2008) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE