Published in Am J Hum Genet on January 08, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet (2015) 1.40
LON is the master protease that protects against protein aggregation in human mitochondria through direct degradation of misfolded proteins. Sci Rep (2015) 0.84
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Sci Rep (2015) 0.83
Mitochondrial cereblon functions as a Lon-type protease. Sci Rep (2016) 0.79
Spatial and temporal dynamics of the cardiac mitochondrial proteome. Expert Rev Proteomics (2015) 0.77
The peroxisomal Lon protease LonP2 in aging and disease: functions and comparisons with mitochondrial Lon protease LonP1. Biol Rev Camb Philos Soc (2016) 0.76
PERM Hypothesis: The Fundamental Machinery Able to Elucidate the Role of Xenobiotics and Hormesis in Cell Survival and Homeostasis. Int J Mol Sci (2017) 0.75
Mitochondrial Lon1 has a role in homeostasis of the mitochondrial ribosome and pentatricopeptide repeat proteins in plants. Plant Signal Behav (2017) 0.75
The Protease Locus of Francisella tularensis LVS Is Required for Stress Tolerance and Infection in the Mammalian Host. Infect Immun (2016) 0.75
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. J Hum Genet (2017) 0.75
Mitochondrial Lon protease in human disease and aging: Including an etiologic classification of Lon-related diseases and disorders. Free Radic Biol Med (2016) 0.75
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Orphanet J Rare Dis (2016) 0.75
Drosophila protease ClpXP specifically degrades DmLRPPRC1 controlling mitochondrial mRNA and translation. Sci Rep (2017) 0.75
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem (1976) 903.81
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
How to measure and predict the molar absorption coefficient of a protein. Protein Sci (1995) 18.71
AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res (1999) 11.30
AAA+ proteins: have engine, will work. Nat Rev Mol Cell Biol (2005) 7.73
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A (2004) 7.70
HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cells. Cell (2007) 6.31
A distinct pathway remodels mitochondrial cristae and mobilizes cytochrome c during apoptosis. Dev Cell (2002) 5.45
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41
Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism. Nat Cell Biol (2002) 2.88
Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One (2012) 2.33
Characterization of PINK1 processing, stability, and subcellular localization. J Neurochem (2008) 2.29
Structure and dynamics of the mitochondrial inner membrane cristae. Biochim Biophys Acta (2006) 1.98
Requirement for the yeast gene LON in intramitochondrial proteolysis and maintenance of respiration. Science (1994) 1.82
The clinical maze of mitochondrial neurology. Nat Rev Neurol (2013) 1.72
PIM1 encodes a mitochondrial ATP-dependent protease that is required for mitochondrial function in the yeast Saccharomyces cerevisiae. J Biol Chem (1994) 1.69
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet (2010) 1.43
Multitasking in the mitochondrion by the ATP-dependent Lon protease. Biochim Biophys Acta (2011) 1.41
Mitochondrial Lon protease regulates mitochondrial DNA copy number and transcription by selective degradation of mitochondrial transcription factor A (TFAM). Proc Natl Acad Sci U S A (2010) 1.38
Promotion of mitochondrial membrane complex assembly by a proteolytically inactive yeast Lon. Science (1996) 1.38
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
Molecular interaction between parkin and PINK1 in mammalian neuronal cells. Mol Cell Neurosci (2009) 1.36
Roles for the human ATP-dependent Lon protease in mitochondrial DNA maintenance. J Biol Chem (2007) 1.34
Transmission of cell stress from endoplasmic reticulum to mitochondria: enhanced expression of Lon protease. J Cell Biol (2002) 1.33
OXPHOS mutations and neurodegeneration. EMBO J (2012) 1.33
The catalytic domain of Escherichia coli Lon protease has a unique fold and a Ser-Lys dyad in the active site. J Biol Chem (2003) 1.33
Modulation of Lon protease activity and aconitase turnover during aging and oxidative stress. FEBS Lett (2002) 1.32
The accumulation of misfolded proteins in the mitochondrial matrix is sensed by PINK1 to induce PARK2/Parkin-mediated mitophagy of polarized mitochondria. Autophagy (2013) 1.31
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist (2004) 1.30
Phosphorylation of human TFAM in mitochondria impairs DNA binding and promotes degradation by the AAA+ Lon protease. Mol Cell (2012) 1.28
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain (2007) 1.23
Turnover of mitochondrial steroidogenic acute regulatory (StAR) protein by Lon protease: the unexpected effect of proteasome inhibitors. Mol Endocrinol (2007) 1.20
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet (2009) 1.16
Cleavage site selection within a folded substrate by the ATP-dependent lon protease. J Biol Chem (2005) 1.16
The mitochondrial ATP-dependent Lon protease: a novel target in lymphoma death mediated by the synthetic triterpenoid CDDO and its derivatives. Blood (2012) 1.15
DNA and RNA binding by the mitochondrial lon protease is regulated by nucleotide and protein substrate. J Biol Chem (2004) 1.13
Biophysical characterizations of human mitochondrial transcription factor A and its binding to tumor suppressor p53. Nucleic Acids Res (2009) 1.13
Functional mechanics of the ATP-dependent Lon protease- lessons from endogenous protein and synthetic peptide substrates. Biochim Biophys Acta (2008) 1.09
The ATP-dependent Lon protease of Mus musculus is a DNA-binding protein that is functionally conserved between yeast and mammals. Gene (2003) 1.08
Oxygen-sensitive mitochondrial accumulation of cystathionine β-synthase mediated by Lon protease. Proc Natl Acad Sci U S A (2013) 1.06
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat (2012) 1.05
ATP-dependent Lon protease controls tumor bioenergetics by reprogramming mitochondrial activity. Cell Rep (2014) 1.05
Crystal structures of Bacillus subtilis Lon protease. J Mol Biol (2010) 1.03
Upregulation of the mitochondrial Lon Protease allows adaptation to acute oxidative stress but dysregulation is associated with chronic stress, disease, and aging. Redox Biol (2013) 1.00
Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells. J Biol Chem (2011) 0.99
The human LON protease binds to mitochondrial promoters in a single-stranded, site-specific, strand-specific manner. Biochemistry (1998) 0.96
The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases. Neurobiol Dis (2012) 0.95
Diverse functions of mitochondrial AAA+ proteins: protein activation, disaggregation, and degradation. Biochem Cell Biol (2010) 0.92
Adenosine triphosphate-dependent degradation of a fluorescent lambda N substrate mimic by Lon protease. Anal Biochem (2001) 0.92
Kinetic characterization of the peptidase activity of Escherichia coli Lon reveals the mechanistic similarities in ATP-dependent hydrolysis of peptide and protein substrates. Biochemistry (2002) 0.92
Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. Clin Immunol (2008) 0.90
Loss of Lon1 in Arabidopsis changes the mitochondrial proteome leading to altered metabolite profiles and growth retardation without an accumulation of oxidative damage. Plant Physiol (2012) 0.89
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. Am J Med Genet A (2005) 0.89
Helix kinks are equally prevalent in soluble and membrane proteins. Proteins (2014) 0.87
Thermodynamic characterization of specific interactions between the human Lon protease and G-quartet DNA. Nucleic Acids Res (2008) 0.86
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet (2008) 0.85
PINK1-Parkin pathway activity is regulated by degradation of PINK1 in the mitochondrial matrix. PLoS Genet (2014) 0.85
Metabolomic approaches to mitochondrial disease: correlation of urine organic acids. Mitochondrion (2004) 0.84
Transcriptional and cellular responses to defective mitochondrial proteolysis in fission yeast. J Mol Biol (2011) 0.84
Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report. Am J Med Genet (1991) 0.83
Mitochondrial ATP-dependent proteases in protection against accumulation of carbonylated proteins. Mitochondrion (2014) 0.81
Active-site-directed chemical tools for profiling mitochondrial Lon protease. ACS Chem Biol (2011) 0.81
Roles of the N domain of the AAA+ Lon protease in substrate recognition, allosteric regulation and chaperone activity. Mol Microbiol (2013) 0.81
Diagnostic electron microscopy on reembedded ("popped off") areas of large Spurr epoxy sections. Ultrastruct Pathol (1984) 0.78
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis. Am J Med Genet A (2010) 0.78
CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report. Am J Med Genet (1995) 0.76
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature. Am J Med Genet (2001) 0.76
Identification of a region in the N-terminus of Escherichia coli Lon that affects ATPase, substrate translocation and proteolytic activity. J Mol Biol (2012) 0.79
Processive degradation of unstructured protein by Escherichia coli Lon occurs via the slow, sequential delivery of multiple scissile sites followed by rapid and synchronized peptide bond cleavage events. Biochemistry (2013) 0.75