Associated Papers
miR-140-5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson-Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway.
Toury L et al.
Aging Cell, 2025
Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.
Zhou X et al.
Biogerontology, 2025
National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.
Okawa Y et al.
Aging, 2025
An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review.
Xu D et al.
Heliyon, 2023
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells.
Harhouri K et al.
Cells, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.
Wang J et al.
Frontiers in Pediatrics, 2022
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
Volkening K et al.
Molecular and Cellular Biochemistry, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.
Erdos MR et al.
Nature Medicine, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation.
Lin EW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Pharmacotherapy to gene editing: potential therapeutic approaches for Hutchinson-Gilford progeria syndrome.
Saxena S et al.
Geroscience, 2020
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.
Harhouri K et al.
Embo Molecular Medicine, 2017
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C et al.
Journal of Medical Genetics, 2016
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.
Harhouri K et al.
Cells, 2016
Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.
Vautrot V et al.
Human Mutation, 2016
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F et al.
European Journal of Human Genetics : Ejhg, 2015
Hutchinson-Gilford progeria syndrome.
Ullrich NJ et al.
Handbook of Clinical Neurology, 2015
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL et al.
European Journal of Human Genetics : Ejhg, 2014
Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development.
McKenna T et al.
Aging Cell, 2014
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome.
Silvera VM et al.
Ajnr. American Journal of Neuroradiology, 2013
The epidemiology of premature aging and associated comorbidities.
Coppedè F
Clinical Interventions in Aging, 2013
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
Reunert J et al.
European Journal of Human Genetics : Ejhg, 2012
Wiedemann-Rautenstrauch syndrome: report of a variant case.
Kiraz A et al.
American Journal of Medical Genetics. Part A, 2012
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
Ahmad Z et al.
Clinical Genetics, 2012
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Hisama FM et al.
American Journal of Medical Genetics. Part A, 2011
[Laminopathies: one gene, several diseases].
Bertrand AT et al.
Biologie Aujourd'hui, 2011
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides.
Fong LG et al.
Human Molecular Genetics, 2009
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.
Dechat T et al.
Genes & Development, 2008
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
Moulson CL et al.
Human Mutation, 2007
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Altered splicing in prelamin A-associated premature aging phenotypes.
De Sandre-Giovannoli A et al.
Progress in Molecular and Subcellular Biology, 2006
A-type nuclear lamins, progerias and other degenerative disorders.
Smith ED et al.
Mechanisms of Ageing and Development, 2005
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL et al.
Human Molecular Genetics, 2004
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Hoffmann K et al.
Nature Genetics, 2002
Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report.
Chu Y et al.
Pediatric Dermatology, 0