Published in Nat Genet on March 07, 2010
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2011) 3.14
Mitochondria: the next (neurode)generation. Neuron (2011) 3.06
Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment. EMBO Rep (2012) 2.08
Mitochondrial quality control: a matter of life and death for neurons. EMBO J (2012) 1.83
SPG7 mutations are a common cause of undiagnosed ataxia. Neurology (2015) 1.66
Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice. EMBO J (2012) 1.58
Quality control of mitochondrial proteostasis. Cold Spring Harb Perspect Biol (2011) 1.55
A new pathway for mitochondrial quality control: mitochondrial-derived vesicles. EMBO J (2014) 1.55
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet (2011) 1.54
Disturbed mitochondrial dynamics and neurodegenerative disorders. Nat Rev Neurol (2014) 1.52
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain (2012) 1.34
Parkin- and PINK1-Dependent Mitophagy in Neurons: Will the Real Pathway Please Stand Up? Front Neurol (2013) 1.17
Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly. EMBO J (2012) 1.10
Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet (2010) 1.08
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease. BMC Neurosci (2010) 1.02
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis (2011) 0.98
Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies. Dis Model Mech (2015) 0.98
AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest (2012) 0.95
Presequence-dependent folding ensures MrpL32 processing by the m-AAA protease in mitochondria. EMBO J (2011) 0.94
The use of next-generation sequencing in movement disorders. Front Genet (2012) 0.94
Spectrum of combined respiratory chain defects. J Inherit Metab Dis (2015) 0.93
Electron cryomicroscopy structure of a membrane-anchored mitochondrial AAA protease. J Biol Chem (2010) 0.93
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation. Hum Mol Genet (2012) 0.91
Identification of human proteins that modify misfolding and proteotoxicity of pathogenic ataxin-1. PLoS Genet (2012) 0.90
Mitochondrial ribosome assembly in health and disease. Cell Cycle (2015) 0.88
Mitochondrial protein quality control: the mechanisms guarding mitochondrial health. Antioxid Redox Signal (2015) 0.88
Matrix proteases in mitochondrial DNA function. Biochim Biophys Acta (2011) 0.87
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet (2012) 0.87
Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum. PLoS One (2012) 0.86
Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila. Hum Mol Genet (2011) 0.84
LON is the master protease that protects against protein aggregation in human mitochondria through direct degradation of misfolded proteins. Sci Rep (2015) 0.84
Mitochondrial protein quality control in health and disease. Br J Pharmacol (2014) 0.84
YME1L degradation reduces mitochondrial proteolytic capacity during oxidative stress. EMBO Rep (2014) 0.84
Control of mitochondrial integrity in ageing and disease. Philos Trans R Soc Lond B Biol Sci (2014) 0.83
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. J Neurol (2015) 0.83
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. J Clin Invest (2014) 0.82
Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation. EMBO J (2014) 0.82
Modifiers of mutant huntingtin aggregation: functional conservation of C. elegans-modifiers of polyglutamine aggregation. PLoS Curr (2011) 0.81
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability. Front Genet (2015) 0.80
The power of yeast to model diseases of the powerhouse of the cell. Front Biosci (Landmark Ed) (2013) 0.80
Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function. Mitochondrion (2015) 0.80
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. BMC Med Genomics (2013) 0.79
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. J Physiol (2016) 0.79
Mitochondrial cereblon functions as a Lon-type protease. Sci Rep (2016) 0.79
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. BMC Med Genet (2015) 0.78
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. Cerebellum Ataxias (2015) 0.78
Loss of Drosophila i-AAA protease, dYME1L, causes abnormal mitochondria and apoptotic degeneration. Cell Death Differ (2015) 0.77
Recent Insights into the Role of Unfolded Protein Response in ER Stress in Health and Disease. Front Cell Dev Biol (2017) 0.77
From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes. BMB Rep (2015) 0.76
Caveolin-1 controls mitochondrial function through regulation of m-AAA mitochondrial protease. Aging (Albany NY) (2016) 0.76
Mitochondrial pathology in progressive cerebellar ataxia. Cerebellum Ataxias (2015) 0.76
The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying. PLoS Genet (2016) 0.75
Mitochondrial Quality Control Proteases in Neuronal Welfare. J Neuroimmune Pharmacol (2016) 0.75
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. Int J Mol Sci (2015) 0.75
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. Clin Genet (2010) 0.75
Commentary: The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. Front Physiol (2016) 0.75
SPG7 and Impaired Emotional Communication. Cerebellum (2016) 0.75
New roles for OMA1 metalloprotease: From mitochondrial proteostasis to metabolic homeostasis. Adipocyte (2013) 0.75
Multifunctional Mitochondrial AAA Proteases. Front Mol Biosci (2017) 0.75
SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res (2003) 25.86
Trinucleotide repeat disorders. Annu Rev Neurosci (2007) 9.45
AAA+ proteins: have engine, will work. Nat Rev Mol Cell Biol (2005) 7.73
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol (2004) 3.83
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell (2005) 3.72
Quality control of mitochondria: protection against neurodegeneration and ageing. EMBO J (2008) 3.39
Mitochondrial disorders in the nervous system. Annu Rev Neurosci (2008) 2.93
The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria. Cell (1996) 2.80
Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1. J Cell Biol (2009) 2.65
Cellular functions, mechanism of action, and regulation of FtsH protease. Annu Rev Microbiol (2005) 2.47
Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases. Crit Rev Biochem Mol Biol (2007) 2.18
AAA+ ATPases: achieving diversity of function with conserved machinery. Traffic (2007) 2.12
An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases. Mol Cell (2009) 2.12
AAA+ proteins and substrate recognition, it all depends on their partner in crime. FEBS Lett (2002) 2.10
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol Cell Biol (2006) 2.00
A novel two-step mechanism for removal of a mitochondrial signal sequence involves the mAAA complex and the putative rhomboid protease Pcp1. J Mol Biol (2002) 1.80
The pathogenesis of spinocerebellar ataxia. Cerebellum (2005) 1.65
Conserved pore residues in the AAA protease FtsH are important for proteolysis and its coupling to ATP hydrolysis. J Biol Chem (2003) 1.61
The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease. EMBO J (1998) 1.56
m-AAA protease-driven membrane dislocation allows intramembrane cleavage by rhomboid in mitochondria. EMBO J (2007) 1.54
Phosphorylation of the budding yeast 9-1-1 complex is required for Dpb11 function in the full activation of the UV-induced DNA damage checkpoint. Mol Cell Biol (2008) 1.54
Characterization of peptides released from mitochondria: evidence for constant proteolysis and peptide efflux. J Biol Chem (2004) 1.53
Cerebellar ataxias. Curr Opin Neurol (2009) 1.52
Spinocerebellar ataxias: an update. Curr Opin Neurol (2007) 1.48
Structure of the whole cytosolic region of ATP-dependent protease FtsH. Mol Cell (2006) 1.46
Pathways to motor incoordination: the inherited ataxias. Nat Rev Neurosci (2004) 1.43
The mitochondrial protease AFG3L2 is essential for axonal development. J Neurosci (2008) 1.29
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. J Neurosci (2009) 1.23
AAA proteases in mitochondria: diverse functions of membrane-bound proteolytic machines. Res Microbiol (2009) 1.22
Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum (2010) 1.16
Autocatalytic processing of m-AAA protease subunits in mitochondria. Mol Biol Cell (2009) 1.11
Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics (1999) 1.10
Preparation of respiratory chain complexes from Saccharomyces cerevisiae wild-type and mutant mitochondria : activity measurement and subunit composition analysis. Methods Mol Biol (2008) 1.10
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain (2005) 1.09
Unbalanced whole arm translocation resulting in loss of 18p in dystonia. Mov Disord (2006) 1.08
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. Exp Neurol (2008) 1.07
Properties and expression of Kv3 channels in cerebellar Purkinje cells. Mol Cell Neurosci (2006) 1.04
Substrate recognition by AAA+ ATPases: distinct substrate binding modes in ATP-dependent protease Yme1 of the mitochondrial intermembrane space. Mol Cell Biol (2007) 1.04
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol (2004) 1.03
Substrate specific consequences of central pore mutations in the i-AAA protease Yme1 on substrate engagement. J Struct Biol (2006) 1.03
Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep (2008) 1.02
Mgr3p and Mgr1p are adaptors for the mitochondrial i-AAA protease complex. Mol Biol Cell (2008) 1.00
Frataxin gene point mutations in Italian Friedreich ataxia patients. Neurogenetics (2007) 1.00
Characterization of mutants of the Escherichia coli AAA protease, FtsH, carrying a mutation in the central pore region. J Struct Biol (2006) 0.99
NMDA receptor composition differs among anatomically diverse malformations of cortical development. J Neuropathol Exp Neurol (2006) 0.94
NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia (2010) 6.23
EGCG redirects amyloidogenic polypeptides into unstructured, off-pathway oligomers. Nat Struct Mol Biol (2008) 5.32
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell (2005) 3.72
SLP-2 is required for stress-induced mitochondrial hyperfusion. EMBO J (2009) 3.61
Quality control of mitochondria: protection against neurodegeneration and ageing. EMBO J (2008) 3.39
How the probability of a false positive affects the value of DNA evidence. J Forensic Sci (2003) 3.17
Prohibitins control cell proliferation and apoptosis by regulating OPA1-dependent cristae morphogenesis in mitochondria. Genes Dev (2008) 2.76
Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1. J Cell Biol (2009) 2.65
Making heads or tails of phospholipids in mitochondria. J Cell Biol (2011) 2.55
Mitochondrial disorders. Brain (2004) 2.32
The DNA damage checkpoint response requires histone H2B ubiquitination by Rad6-Bre1 and H3 methylation by Dot1. J Biol Chem (2005) 2.27
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol (2013) 2.24
The genetic interactome of prohibitins: coordinated control of cardiolipin and phosphatidylethanolamine by conserved regulators in mitochondria. J Cell Biol (2009) 2.22
Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases. Crit Rev Biochem Mol Biol (2007) 2.18
Lung stress and strain during mechanical ventilation: any difference between statics and dynamics? Crit Care Med (2013) 2.14
The E3 ligase parkin maintains mitochondrial integrity by increasing linear ubiquitination of NEMO. Mol Cell (2013) 2.12
An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases. Mol Cell (2009) 2.12
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet (2011) 2.10
Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol (2009) 2.09
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS. Nat Struct Mol Biol (2009) 2.08
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature (2012) 2.08
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol Cell Biol (2006) 2.00
Maternal and offspring pools of osteocalcin influence brain development and functions. Cell (2013) 2.00
Randomized controlled trial of botulinum toxin versus laparoscopic heller myotomy for esophageal achalasia. Ann Surg (2004) 1.98
Prohibitin function within mitochondria: essential roles for cell proliferation and cristae morphogenesis. Biochim Biophys Acta (2008) 1.96
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol (2003) 1.95
On the value of probability for evaluating results of comparative pattern analyses. Forensic Sci Int (2013) 1.93
Formation of membrane-bound ring complexes by prohibitins in mitochondria. Mol Biol Cell (2004) 1.92
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn (2005) 1.91
Overlapping mechanisms promote postsynaptic RAD-51 filament disassembly during meiotic double-strand break repair. Mol Cell (2010) 1.90
Two deubiquitylases act on mitofusin and regulate mitochondrial fusion along independent pathways. Mol Cell (2013) 1.90
Histone methyltransferase Dot1 and Rad9 inhibit single-stranded DNA accumulation at DSBs and uncapped telomeres. EMBO J (2008) 1.89
OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria. Mol Biol Cell (2007) 1.87
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet (2003) 1.85
Mitochondrial quality control: a matter of life and death for neurons. EMBO J (2012) 1.83
A randomized prospective comparison of self-expandable plastic stents and partially covered self-expandable metal stents in the palliation of malignant esophageal dysphagia. Am J Gastroenterol (2007) 1.83
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet (2009) 1.79
Solution structure of polyglutamine tracts in GST-polyglutamine fusion proteins. FEBS Lett (2002) 1.78
Lung stress and strain during mechanical ventilation: any safe threshold? Am J Respir Crit Care Med (2011) 1.77
RNase H and postreplication repair protect cells from ribonucleotides incorporated in DNA. Mol Cell (2012) 1.74
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med (2006) 1.73
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet (2012) 1.71
From Alzheimer to Huntington: why is a structural understanding so difficult? EMBO J (2003) 1.68
Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease. J Neurosci (2005) 1.68
The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol (2009) 1.68
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet (2007) 1.66
Physical and functional interactions between nucleotide excision repair and DNA damage checkpoint. EMBO J (2004) 1.65
DNA nucleotide excision repair-dependent signaling to checkpoint activation. Proc Natl Acad Sci U S A (2006) 1.64
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica (2009) 1.63
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain (2008) 1.63
Prediction of lymph node status in superficial esophageal carcinoma. Ann Surg Oncol (2008) 1.62
The solution structure of the Josephin domain of ataxin-3: structural determinants for molecular recognition. Proc Natl Acad Sci U S A (2005) 1.62
NMR characterization of kinase p38 dynamics in free and ligand-bound forms. Angew Chem Int Ed Engl (2006) 1.61
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. Exp Neurol (2009) 1.59
Membrane protein degradation by AAA proteases in mitochondria. Biochim Biophys Acta (2002) 1.57
Structural bases for the interaction of frataxin with the central components of iron-sulphur cluster assembly. Nat Commun (2010) 1.56
Solution structure of the bacterial frataxin ortholog, CyaY: mapping the iron binding sites. Structure (2004) 1.55
Quality control of mitochondrial proteostasis. Cold Spring Harb Perspect Biol (2011) 1.55
Time to generate ventilator-induced lung injury among mammals with healthy lungs: a unifying hypothesis. Intensive Care Med (2011) 1.55
m-AAA protease-driven membrane dislocation allows intramembrane cleavage by rhomboid in mitochondria. EMBO J (2007) 1.54
G-quartet-dependent recognition between the FMRP RGG box and RNA. RNA (2003) 1.54
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet (2011) 1.54
Phosphorylation of the budding yeast 9-1-1 complex is required for Dpb11 function in the full activation of the UV-induced DNA damage checkpoint. Mol Cell Biol (2008) 1.54
Characterization of peptides released from mitochondria: evidence for constant proteolysis and peptide efflux. J Biol Chem (2004) 1.53
Barrett's epithelium after antireflux surgery. J Gastrointest Surg (2005) 1.52
Impaired folding of the mitochondrial small TIM chaperones induces clearance by the i-AAA protease. J Mol Biol (2012) 1.51
Barrett's esophagus and adenocarcinoma risk: the experience of the North-Eastern Italian Registry (EBRA). Ann Surg (2012) 1.50
Prohibitins and the functional compartmentalization of mitochondrial membranes. J Cell Sci (2009) 1.49
Effects of reduced dialysate calcium on calcium-phosphorus product and bone metabolism in hemodialysis patients. Nephron Clin Pract (2004) 1.46
The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. Structure (2006) 1.45
The structure of Lethocerus troponin C: insights into the mechanism of stretch activation in muscles. Structure (2007) 1.45
Etiology, diagnosis, and treatment of failures after laparoscopic Heller myotomy for achalasia. Ann Surg (2002) 1.45
Regulation of mitochondrial fusion by the F-box protein Mdm30 involves proteasome-independent turnover of Fzo1. J Cell Biol (2006) 1.44
Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair. Mol Cell (2013) 1.44
Oma1, a novel membrane-bound metallopeptidase in mitochondria with activities overlapping with the m-AAA protease. J Biol Chem (2003) 1.42
Iron binding and oxidation kinetics in frataxin CyaY of Escherichia coli. J Mol Biol (2004) 1.42
Characterization of the structure and the amyloidogenic properties of the Josephin domain of the polyglutamine-containing protein ataxin-3. J Mol Biol (2004) 1.41
Intramitochondrial transport of phosphatidic acid in yeast by a lipid transfer protein. Science (2012) 1.36
Polyglutamine is not all: the functional role of the AXH domain in the ataxin-1 protein. J Mol Biol (2005) 1.36
The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity. Neurobiol Dis (2012) 1.35