Published in Hum Mol Genet on August 15, 2003
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2005) 3.64
"Laminopathies": a wide spectrum of human diseases. Exp Cell Res (2007) 3.46
Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest (2009) 2.94
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. Proc Natl Acad Sci U S A (2004) 2.39
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2006) 2.28
Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol (2010) 2.12
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol (2005) 2.06
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2005) 2.05
Genome-wide association scan for childhood caries implicates novel genes. J Dent Res (2011) 2.05
When lamins go bad: nuclear structure and disease. Cell (2013) 1.84
Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24. Biochem J (2005) 1.83
The Princeton Protein Orthology Database (P-POD): a comparative genomics analysis tool for biologists. PLoS One (2007) 1.83
The posttranslational processing of prelamin A and disease. Annu Rev Genomics Hum Genet (2009) 1.81
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. J Biol Chem (2009) 1.79
Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta (2009) 1.63
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet (2011) 1.51
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci (2005) 1.43
Balancing the fat: lipid droplets and human disease. EMBO Mol Med (2013) 1.40
Mouse models of the laminopathies. Exp Cell Res (2007) 1.40
Lipodystrophy: pathophysiology and advances in treatment. Nat Rev Endocrinol (2010) 1.34
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab (2010) 1.23
HIV protease inhibitors block the zinc metalloproteinase ZMPSTE24 and lead to an accumulation of prelamin A in cells. Proc Natl Acad Sci U S A (2007) 1.20
Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest. Mol Cell Biol (2006) 1.19
Biogenesis of the Saccharomyces cerevisiae pheromone a-factor, from yeast mating to human disease. Microbiol Mol Biol Rev (2012) 1.13
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. Hum Mol Genet (2012) 1.11
Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin. Hum Mol Genet (2010) 1.09
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet (2013) 1.09
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab (2010) 1.07
Inner nuclear membrane proteins: impact on human disease. Chromosoma (2012) 1.05
Small-molecule inhibitors of the Rce1p CaaX protease. J Biomol Screen (2007) 1.03
Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders. Autophagy (2012) 1.00
A potent HIV protease inhibitor, darunavir, does not inhibit ZMPSTE24 or lead to an accumulation of farnesyl-prelamin A in cells. J Biol Chem (2008) 0.99
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. Clin Genet (2008) 0.98
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A (2010) 0.98
HIV-protease inhibitors block the enzymatic activity of purified Ste24p. Biochem Biophys Res Commun (2008) 0.97
Lamin A, farnesylation and aging. Exp Cell Res (2011) 0.97
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab (2008) 0.97
Perturbation of wild-type lamin A metabolism results in a progeroid phenotype. Aging Cell (2008) 0.96
Inhibition of the CaaX proteases Rce1p and Ste24p by peptidyl (acyloxy)methyl ketones. Biochim Biophys Acta (2007) 0.91
Genetic Association of MPPED2 and ACTN2 with Dental Caries. J Dent Res (2014) 0.90
From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing. Cell Mol Life Sci (2007) 0.89
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. Hum Mutat (2015) 0.86
Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24. PLoS One (2012) 0.86
Suppression of the C/EBP family of transcription factors in adipose tissue causes lipodystrophy. J Mol Endocrinol (2011) 0.86
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J Hum Genet (2011) 0.83
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. Eur J Hum Genet (2012) 0.83
The genetic and molecular bases of monogenic disorders affecting proteolytic systems. J Med Genet (2005) 0.83
Loss of MT1-MMP causes cell senescence and nuclear defects which can be reversed by retinoic acid. EMBO J (2015) 0.83
Molecular mechanisms for insulin resistance in treated HIV-infection. Best Pract Res Clin Endocrinol Metab (2011) 0.83
Protein farnesylation and disease. J Inherit Metab Dis (2012) 0.83
Collagen expression in fibroblasts with a novel LMNA mutation. Biochem Biophys Res Commun (2006) 0.82
Altered nuclear functions in progeroid syndromes: a paradigm for aging research. ScientificWorldJournal (2009) 0.82
Lipodystrophy syndromes. Dermatol Clin (2008) 0.82
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. Eur J Hum Genet (2013) 0.81
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab (2016) 0.80
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells. Cells (2016) 0.80
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder. J Cell Sci (2016) 0.79
Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice. J Anat (2008) 0.79
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. Clin Genet (2010) 0.78
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy. Cells (2016) 0.76
Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells. Dis Model Mech (2016) 0.76
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China. BMC Pediatr (2014) 0.75
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. Cold Spring Harb Mol Case Stud (2017) 0.75
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. Mol Syndromol (2011) 0.75
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. Aging (Albany NY) (2013) 0.75
Genetics of Lipodystrophy. Endocrinol Metab Clin North Am (2017) 0.75
Human CaaX protease ZMPSTE24 expressed in yeast: Structure and inhibition by HIV protease inhibitors. Protein Sci (2016) 0.75
Mass spectrometry captures off-target drug binding and provides mechanistic insights into the human metalloprotease ZMPSTE24. Nat Chem (2016) 0.75
Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge. Front Genet (2016) 0.75
Mapping the contact surfaces in the Lamin A:AIMP3 complex by hydrogen/deuterium exchange FT-ICR mass spectrometry. PLoS One (2017) 0.75
Leptin-replacement therapy for lipodystrophy. N Engl J Med (2002) 7.78
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev (2010) 4.95
LMNA mutations in atypical Werner's syndrome. Lancet (2003) 4.81
Evidence-based nutrition principles and recommendations for the treatment and prevention of diabetes and related complications. Diabetes Care (2002) 4.46
Thiazolidinedione-associated congestive heart failure and pulmonary edema. Mayo Clin Proc (2003) 4.42
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Identification of ligands for DAF-12 that govern dauer formation and reproduction in C. elegans. Cell (2006) 3.82
Position statement: Utility, limitations, and pitfalls in measuring testosterone: an Endocrine Society position statement. J Clin Endocrinol Metab (2006) 3.46
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A (2007) 3.11
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet (2002) 3.09
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
A gain-of-function mutation in DHT synthesis in castration-resistant prostate cancer. Cell (2013) 2.94
Dihydrotestosterone synthesis bypasses testosterone to drive castration-resistant prostate cancer. Proc Natl Acad Sci U S A (2011) 2.89
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
An expert consensus statement on use of adrenal vein sampling for the subtyping of primary aldosteronism. Hypertension (2013) 2.72
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
Clinical and biochemical consequences of CYP17A1 inhibition with abiraterone given with and without exogenous glucocorticoids in castrate men with advanced prostate cancer. J Clin Endocrinol Metab (2011) 2.32
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Spironolactone prevents chlorthalidone-induced sympathetic activation and insulin resistance in hypertensive patients. Hypertension (2012) 2.23
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab (2004) 2.22
Genetic disorders of adipose tissue development, differentiation, and death. Annu Rev Genomics Hum Genet (2006) 2.17
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet (2010) 2.05
Evidence-based nutrition principles and recommendations for the treatment and prevention of diabetes and related complications. Diabetes Care (2003) 1.91
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
Exercise training versus propranolol in the treatment of the postural orthostatic tachycardia syndrome. Hypertension (2011) 1.85
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet (2003) 1.83
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med (2009) 1.80
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Review: long-term impact of bariatric surgery on body weight, comorbidities, and nutritional status. J Clin Endocrinol Metab (2006) 1.79
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. Cell Metab (2009) 1.79
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
Nutrition principles and recommendations in diabetes. Diabetes Care (2004) 1.78
Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab (2002) 1.78
Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res (2006) 1.78
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A (2004) 1.69
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab (2003) 1.65
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab (2002) 1.61
Current consequences of prenatal diagnosis of congenital diaphragmatic hernia. J Pediatr Surg (2006) 1.60
Arginine 276 controls the directional preference of AKR1C9 (rat liver 3alpha-hydroxysteroid dehydrogenase) in human embryonic kidney 293 cells. Endocrinology (2005) 1.58
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine (Baltimore) (2003) 1.58
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore) (2004) 1.55
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
Prenatal diagnosis of trisomy 17 mosaicism. Prenat Diagn (2007) 1.51
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort. Circ Cardiovasc Genet (2012) 1.51
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49
Testosterone supplementation of megestrol therapy does not enhance lean tissue accrual in men with human immunodeficiency virus-associated weight loss: a randomized, double-blind, placebo-controlled, multicenter trial. J Clin Endocrinol Metab (2006) 1.49
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45
Defining hypercalciuria in nephrolithiasis. Kidney Int (2011) 1.44
Laminopathies: multisystem dystrophy syndromes. Mol Genet Metab (2005) 1.44
Genetic basis of lipodystrophies and management of metabolic complications. Annu Rev Med (2006) 1.44
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet (2003) 1.43
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41
MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat (2010) 1.41
The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J (2006) 1.40
Chromosome bands and ends revisited. Am J Med Genet A (2003) 1.39
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A (2014) 1.39
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat (2005) 1.39
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet (2005) 1.38
Pericardial effusion in the first trimester of pregnancy. Prenat Diagn (2011) 1.38
Clinical review 153: Lipodystrophy in human immunodeficiency virus-infected patients. J Clin Endocrinol Metab (2002) 1.38
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet (2005) 1.37
Angelman syndrome (AS, MIM 105830). Eur J Hum Genet (2009) 1.35
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab (2003) 1.33
Associations among androgens, estrogens, and natriuretic peptides in young women: observations from the Dallas Heart Study. J Am Coll Cardiol (2006) 1.32
Carrier testing in minors: a systematic review of guidelines and position papers. Eur J Hum Genet (2006) 1.31
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet (2004) 1.31
Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends Endocrinol Metab (2003) 1.31
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab (2003) 1.30
Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet (2003) 1.30
Pfeiffer syndrome. Orphanet J Rare Dis (2006) 1.30
Abiraterone inhibits 3β-hydroxysteroid dehydrogenase: a rationale for increasing drug exposure in castration-resistant prostate cancer. Clin Cancer Res (2012) 1.30
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet (2004) 1.29
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28
3beta-hydroxysteroid dehydrogenase is a possible pharmacological target in the treatment of castration-resistant prostate cancer. Endocrinology (2010) 1.27
Seipin: a mysterious protein. Trends Mol Med (2004) 1.27
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum Mutat (2006) 1.26
Identification of the nuclear receptor DAF-12 as a therapeutic target in parasitic nematodes. Proc Natl Acad Sci U S A (2009) 1.26
Molecular pathways: Inhibiting steroid biosynthesis in prostate cancer. Clin Cancer Res (2013) 1.26
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat (2011) 1.25
Lipodystrophy: lessons in lipid and energy metabolism. Curr Opin Lipidol (2006) 1.25
Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells. J Clin Endocrinol Metab (2012) 1.25