Patrick J. Heizer, Ye Yang, Yiping Tu, Paul H. Kim, Natalie Chen, Yan Hu, Yuko Yoshinaga, Pieter J. de Jong, Laurent Vergnes, Jazmin Morales, Robert L. Li, Nicholas Jackson, Karen Reue, Stephen G. Young, Loren G. Fong,
... S. Prelamin A, Zmpste24, misshapen cell nuclei, and progeria—New evidence suggesting that protein farnesylation could be ... et al.Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.Proc. Natl. ... et al.Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.Proc. Natl. ... et al.Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.Proc. Natl. ... et al.Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.Proc. Natl. ...
Tópico(s): Ubiquitin and proteasome pathways
2020 - Elsevier BV | Journal of Lipid Research
Ray Kreienkamp, Cyrielle Billon, Gonzalo Bedia‐Diaz, Carolyn J. Albert, Zacharie Toth, Andrew A. Butler, Sarah McBride‐Gagyi, David A. Ford, Ángel Baldán, Thomas P. Burris, Susana Gonzalo,
Abstract Hutchinson‐Gilford Progeria Syndrome (HGPS) is a devastating premature aging disease. Mouse models have been instrumental for understanding HGPS mechanisms and for ... developing effective therapies include the unknown etiology of progeria mice early death, seemingly unrelated to the reported ... severity of human disease. Here, we show that progeria mice die from starvation and cachexia. Switching progeria mice approaching death from regular diet to high‐ ... which is the greatest lifespan extension recorded in progeria mice. The extended lifespan allows for progeria mice ...
Tópico(s): Trace Elements in Health
2018 - Wiley | Aging Cell
Howard J. Worman, Susan Michaelis,
HomeCirculationVol. 138, No. 3Permanently Farnesylated Prelamin A, Progeria, and Atherosclerosis Free AccessEditorialPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessEditorialPDF/EPUBPermanently Farnesylated Prelamin A, Progeria, and Atherosclerosis Howard J. Worman, MD and Susan ... Death in a Mouse Model of Hutchinson-Gilford Progeria SyndromeArticle, see p 266Cardiovascular disease (CVD) is the ...
Tópico(s): Ubiquitin and proteasome pathways
2018 - Lippincott Williams & Wilkins | Circulation
Iason S. Mantagos, Monica E. Kleinman, Mark W. Kieran, Leslie B. Gordon,
... establish the natural history of ophthalmic characteristics in Progeria patients and to determine incidence of ocular manifestations. Design Retrospective case series of patients with Progeria who were seen between 2007 and 2016. Methods ... Population: Fourteen patients (28 eyes) with Hutchinson-Gilford Progeria syndrome were included for statistical analysis from a ... who have been enrolled in clinical trials for Progeria at Boston Children's Hospital. Clinical treatment trial ... 20% of the world's known patients with Progeria. Interventions or Observation Procedures: Complete ophthalmic examination. Main ...
Tópico(s): Retinoids in leukemia and cellular processes
2017 - Elsevier BV | American Journal of Ophthalmology
... a Cure for One of the Rarest Diseases: Progeria Free AccessEditorialPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload ... a Cure for One of the Rarest Diseases: Progeria Francis S. Collins, MD, PhD Francis S. CollinsFrancis ... of the rarest of rare diseases: Hutchinson-Gilford progeria syndrome (HGPS), and this issue of Circulation reports ... A recent international scientific workshop hosted by the Progeria Research Foundation11 attempted to tackle that issue. The ... safest maximum dose of everolimus for children with progeria. If toxicity is manageable, the trial will move ...
Tópico(s): Neurogenetic and Muscular Disorders Research
2016 - Lippincott Williams & Wilkins | Circulation
Junko Oshima, Fuki M. Hisama, George M. Martin,
... 1An Encouraging Progress Report on the Treatment of Progeria and Its Implications for Atherogenesis Free AccessEditorialPDF/EPUBAboutView ... EPUBAn Encouraging Progress Report on the Treatment of Progeria and Its Implications for Atherogenesis Junko Oshima, MD, ... are the Werner syndrome and the Hutchinson-Gilford Progeria Syndrome (HGPS). In both disorders, atherosclerosis is a ... assisted by the efforts of a highly successful Progeria Research Foundation (http://www.progeriaresearch.org/), managed to ... Lévy N. Lamin a truncation in Hutchinson-Gilford progeria.Science. 2003; 300:2055.CrossrefMedlineGoogle Scholar3. Eriksson M, ...
Tópico(s): RNA modifications and cancer
2014 - Lippincott Williams & Wilkins | Circulation
... on the vascular pathophenotype associated with Hutchinson-Gilford progeria syndrome (HGPS). This rare genetic disorder is the ... point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.Nature. 2003; 423:293–298.CrossrefMedlineGoogle Scholar6. ... calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment.Circulation. ... EG, Gordon LB. Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging.Arterioscler ...
Tópico(s): Bone health and osteoporosis research
2013 - Lippincott Williams & Wilkins | Circulation
Robert Cleveland, Leslie B. Gordon, Monica E. Kleinman, David T. Miller, Catherine M. Gordon, Brian D. Snyder, Ara Nazarian, Anita Giobbie‐Hurder, Donna Neuberg, Mark W. Kieran,
Progeria is a rare segmental premature aging disease with significant skeletal abnormalities. Defining the full scope of ... of a large proportion of the world's progeria population (estimated at 1 in 4 million). There ... prospective study describing the skeletal abnormalities associated with progeria. To define characteristic radiographic features of this syndrome. Thirty-nine children with classic progeria, ages 2–17 years, from 29 countries were ... 16 boys—the largest number of patients with progeria evaluated prospectively to date. Eight new and two ...
Tópico(s): Parvovirus B19 Infection Studies
2012 - Springer Science+Business Media | Pediatric Radiology
Hutchinson-Gilford progeria syndrome (HGPS) is a rare, sporadic, autosomal dominant disease with phenotypic features of premature aging (1Merideth M.A. ... et al.Phenotype and course of Hutchinson-Gilford progeria syndrome.N. Engl. J. Med. 2008; 358: 592- ... point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.Nature. 2003; 423: 293-298Google Scholar, 3De ... et al.Lamin a truncation in Hutchinson-Gilford progeria.Science. 2003; 300: 2055Google Scholar). Besides HGPS, a ... al.Prelamin A, Zmpste24, misshapen cell nuclei, and progeria–new evidence suggesting that protein farnesylation could be ...
Tópico(s): Genomics and Chromatin Dynamics
2009 - Elsevier BV | Journal of Lipid Research
Shao H. Yang, Sandy Y. Chang, Douglas Andres, H. Peter Spielmann, Stephen G. Young, Loren G. Fong,
Hutchinson-Gilford progeria syndrome (HGPS) is caused by the accumulation of a farnesylated form of prelamin A (progerin). Previously, we showed ... expressing a nonfarnesylated version of progerin (LmnanHG/+) develop progeria-like disease phenotypes. The fact that LmnanHG/+ mice ... compared the ability of an FTI to improve progeria-like disease phenotypes in both LmnaHG/+ and LmnanHG/+ ... drug on the farnesylation of progerin. Hutchinson-Gilford progeria syndrome (HGPS) is caused by the accumulation of ... expressing a nonfarnesylated version of progerin (LmnanHG/+) develop progeria-like disease phenotypes. The fact that LmnanHG/+ mice ...
Tópico(s): Genomics and Chromatin Dynamics
2009 - Elsevier BV | Journal of Lipid Research
Brandon S.J. Davies, Shao H. Yang, Emily Farber, Roger Lee, Suzanne B. Buck, Douglas Andres, H. Peter Spielmann, Brian Agnew, Fuyuhiko Tamanoi, Loren G. Fong, Stephen G. Young,
Hutchinson-Gilford progeria syndrome (HGPS) is caused by the synthesis of a truncated prelamin A, commonly called progerin, that contains a ... the milder disease in LmnaggHG/+ mice. Hutchinson-Gilford progeria syndrome (HGPS) is caused by the synthesis of ... the milder disease in LmnaggHG/+ mice. Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease characterized ... wizened appearance) (1Debusk F.L The Hutchinson-Gilford progeria syndrome..J. Pediatr. 1972; 80: 697-724Abstract Full ... et al.Phenotype and course of Hutchinson-Gilford progeria syndrome..N. Engl. J. Med. 2008; 358: 592- ...
Tópico(s): Retinoids in leukemia and cellular processes
2008 - Elsevier BV | Journal of Lipid Research
L. B. Gordon, Christine J. Harling‐Berg, F. G. Rothman,
... quality of life for children with Hutchinson-Gilford progeria syndrome (henceforth progeria), a rare (frequency 1 in 4 million), multisystem, ... The journey to the first clinical trial for progeria has been facilitated by a series of collaborative scientific workshops organized by The Progeria Research Foundation (PRF) and supported by agencies interested ... http://www.progeriaresearch. org/2007_prf_workshop_on_progeria.html). These meetings have provided a concentrated forum ... the collective thinking of clinicians and scientists about progeria, forge collaborations in this little-known field, and ...
Tópico(s): Genomics and Chromatin Dynamics
2008 - Oxford University Press | The Journals of Gerontology Series A
Shao H. Yang, Xin Qiao, Emily Farber, Sandy Y. Chang, Loren G. Fong, Stephen G. Young,
Hutchinson-Gilford progeria syndrome is caused by the synthesis of a mutant form of prelamin A, which is generally called progerin. ... that heterozygous mice (LmnaHG/+) exhibit many phenotypes of progeria. In this study, we tested the hypothesis that ... state levels of progerin and the severity of progeria-like disease phenotypes. Hutchinson-Gilford progeria syndrome is caused by the synthesis of a ... that heterozygous mice (LmnaHG/+) exhibit many phenotypes of progeria. In this study, we tested the hypothesis that ...
Tópico(s): Trace Elements in Health
2008 - Elsevier BV | Journal of Biological Chemistry
Roland Foisner, Ueli Aebi, Gisèle Bonne, Yosef Gruenbaum, Giuseppe Novelli,
... 6% presented with premature aging syndromes (Hutchinson–Gilford Progeria; Atypical Werner Syndrome) and 3% with axonal neuropathies. ... 31Crossref PubMed Scopus (686) Google Scholar]. Nuclei of progeria fibroblasts expressing the mutant lamin A (LAΔ0) lose ... phenotype in the premature aging disease Hutchinson–Gilford progeria syndrome.Nat Med. 2005; 11: 440-445Crossref PubMed ... cells contain farnesylated lamin A (typically found in progeria [[25]Goldman R.D. Shumaker D.K. Erdos ... progressive changes in nuclear architecture in Hutchinson–Gilford progeria syndrome.Proc Natl Acad Sci USA. 2004; 101: ...
Tópico(s): Genomics and Chromatin Dynamics
2007 - Elsevier BV | Neuromuscular Disorders
... Casey. Meg carried a diagnosis of Hutchinson-Gilford progeria syndrome, the most dramatic form of premature aging— ... had clearly lived longer than most do with progeria. Most children with this disorder die of cardiovascular ... Because of Meg, I got very interested in progeria and wondered why more wasn't known about ... left Yale, and I stopped thinking much about progeria. Then, about 5 years ago, I met a boy named Sam who has progeria in the classic form. Sam's parents are ... of their son's diagnosis, they started the Progeria Research Foundation. They came to me asking for ...
Tópico(s): RNA modifications and cancer
2006 - Elsevier BV | The American Journal of Human Genetics
Brian A. Kudlow, Brian K. Kennedy,
... a gene targeted for mutation in Hutchinson Gilford Progeria Syndrome, may control the onset of aging-associated ... a gene targeted for mutation in Hutchinson Gilford Progeria Syndrome, may control the onset of aging-associated ... evidence that the gene mutated in Hutchinson-Gilford Progeria Syndrome (HGPS), LMNA, may have a role to ... phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.Nat. Med. 2005; 11: 440-445Crossref PubMed ... et al.Lamin A truncation in Hutchison-Gilford progeria.Science. 2003; 300: 2055Crossref PubMed Scopus (992) Google ...
Tópico(s): DNA Repair Mechanisms
2006 - Elsevier BV | Current Biology
... Excess of rare cancers in Werner syndrome (adult progeria).Cancer Epidemiol. Biomarkers Prev. 1996; 5: 239-246PubMed ... rare condition (∼1/8 million births) as “Childhood Progeria” in order to differentiate it from the Werner syndrome, which is sometimes referred to as “Adult Progeria.” A skilled pediatrician can make the diagnosis within ... life (DeBusk, 1972DeBusk F.L. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of ... Google Scholar, Brown, 2003Brown W.T. Hutchinson-Gilford Progeria Syndrome.in: Hisami F.M. Weissman S.M. ...
Tópico(s): DNA Repair Mechanisms
2005 - Cell Press | Cell
Tao Yan, Shijun Li, Xiaohong Jiang, Larry W. Oberley,
... the first time in human skin fibroblasts from progeria, a premature aging disease. Altered levels of antioxidant enzymes were found in progeria cells. Basal levels of MnSOD were decreased in progeria cells as well as a blunted induction in ... may contribute to the accelerated aging process in progeria cells. In contrast, the levels of CuZnSOD showed no progeria-related change. Two H2O2removing enzymes demonstrated a significant reduction in progeria cells: only 50% of normal CAT activity and ... of normal GPX activity can be detected in progeria cells. This diminished H2O2removing capacity in progeria cells ...
Tópico(s): Mitochondrial Function and Pathology
1999 - Elsevier BV | Biochemical and Biophysical Research Communications
... 1934. Google Scholar4. THANNHAUSER SJ: Werner's syndrome (progeria of the adult) and Rothmund's syndrome: two ... 1954. MedlineGoogle Scholar9. GRANT AP: Werner's syndrome (progeria in the adult). Ulster Med. J. 26: 65, ... Chicago) 71: 197, 1955. CrossrefGoogle Scholar12. TALBOTBUTLERPRATTMACLACHENTHANNHEIMER NBAMELEAJ: Progeria, clinical metabolic and pathologic studies. Amer. J. Dis. ... 1949. CrossrefMedlineGoogle Scholar19. SHEETS RF: Werner's syndrome (progeria of the adult). Amer. Pract. 1: 390, 1950. ... Effect of vitamin E and methyltestosterone upon the progeria-like syndrome produced by dihydrotachysterol. Amer. J. Clin. ...
Tópico(s): melanin and skin pigmentation
1965 - American College of Physicians | Annals of Internal Medicine
Article1 October 1945WERNER'S SYNDROME (PROGERIA OF THE ADULT) AND ROTHMUND'S SYNDROME: TWO TYPES OF CLOSELY RELATED HEREDOFAMILIAL ATROPHIC DERMATOSES WITH JUVENILE CATARACTS AND ENDOCRINE FEATURES; ... Trans., 1897, lxxx, 17. Google Scholar50. GILFORD H: Progeria: a form of senilism, Practitioner, 1904, lxxiii, 188. Google Scholar51. GILFORD H: Progeria and ateliosis, Lancet, 1913, i, 412. CrossrefGoogle Scholar52. CURTINKOTZEN VTHF: Progeria, Am. Jr. Dis. Child., 1929, xxxviii, 993. CrossrefGoogle ...
Tópico(s): RNA regulation and disease
1945 - American College of Physicians | Annals of Internal Medicine
Aylin Caliskan, Samantha A. W. Crouch, Sara Giddins, Thomas Dandekar, Seema Dangwal,
... and the rare and fatal premature aging syndrome progeria (Hutchinson-Gilford progeria syndrome, HGPS). In our study, we focused on ... silico analysis of differentially expressed genes (DEGs) in progeria and aging, using a publicly available RNA-Seq ... subsets of the dataset (healthy children, nonagenarians and progeria patients), we identified several genes involved in both natural aging and progeria (KRT8, KRT18, ACKR4, CCL2, UCP2, ADAMTS15, ACTN4P1, WNT16, ... compare "normal aging" (nonagenarians vs. healthy children) and progeria (HGPS patients vs. healthy children), (2) enlist genes ...
Tópico(s): RNA modifications and cancer
2022 - Multidisciplinary Digital Publishing Institute | Biomedicines
Katrin Pfleghaar, Pekka Taimen, Veronika Butin‐Israeli, Takeshi Shimi, Sabine Langer-Freitag, Yolanda Markaki, Anne E. Goldman, Manfred Wehnert, Robert D. Goldman,
... the gene encoding A-type lamins (LMNA) cause progeria, a rare premature aging disorder. The major pathognomonic hallmarks of progeria cells are seen as nuclear deformations or blebs ... nuclear lamina. However, the functional significance of these progeria-associated blebs remains unknown. We have carried out ... analysis of the structural and functional consequences of progeria-associated nuclear blebs in dermal fibroblasts from a progeria patient carrying a rare point mutation p.S143F ( ... factors. Our results suggest that the p.S143F progeria mutation has a severe impact not only on ...
Tópico(s): Genomics and Chromatin Dynamics
2015 - Taylor & Francis | Nucleus
Huize Pan, Ning Cai, Mo Li, Guang‐Hui Liu, Juan Carlos Izpisúa Belmonte,
... facilitate the degradation of progerin and thus prevent progeria-associated ageing phenotypes in Hutchinson-Gilford progeria syndrome (HGPS) fibroblasts. Download figure Download PowerPoint Autophagic ... Induction of autophagy by rapamycin in Hutchinson–Gilford progeria syndrome (HGPS) fibroblasts can facilitate the elimination of ... cellular senescence, and thus the normalization of most progeria-associated cellular and molecular phenotypes (Cao et al, ... including our own, have successfully generated iPSCs from progeria patients (Ho et al, 2011; Liu et al, ...
Tópico(s): Pluripotent Stem Cells Research
2013 - Springer Nature | EMBO Molecular Medicine
Nadir M. Maraldi, Cristina Capanni, Giovanna Lattanzi, Daria Camozzi, Andrea Facchini, Francesco A. Manzoli,
Hutchinson Gilford progeria syndrome (progeria) is a rare childhood segmental progeroid syndrome which shares similarities with the pathology of vascular disease of normal aging adults, ... an accelerated timescale. Clinical evaluations of children with progeria and histological analyses of vascular autopsy specimens have ... compelling evidence to suggest that vascular disease in progeria is highly similar to progressive atherosclerosis seen in ... a paucity of lipid accumulation. Additionally, children with progeria do not experience an increase in vascular intimal- ...
Tópico(s): PARP inhibition in cancer therapy
2007 - Pergamon Press | Advances in Enzyme Regulation
Children with Progeria can be an inspiration to those who meet them. Mission The Progeria Family Circle is a parents' organisation and network that supports European Progeria children and their families in several ways. The ... specialist physicians, and to exchange actual information about Progeria. Information As a second objective, the Progeria Family Circle offers parents of European children advice ... into contact with specialists in the field of Progeria. Support Progeria families come from different countries with ...
Tópico(s): Nuclear Structure and Function
2010 - BioMed Central | Orphanet Journal of Rare Diseases
Alain Colige, Betty Nusgens, CH. M. Lapiere,
ABSTRACT The Hutchinson-Gilford syndrome (progeria) is a rare disorder in childhood characterized by premature and accelerated aging. This study reports the effect of a potent growth ... macromolecules and collagenase expression of two strains of progeria skin-derived cells. At low population doubling levels (PDL<IO), confluent cultures of progeria fibroblasts made quiescent by lowering the concentration of ... No obvious difference between normal and low PDL progeria fibroblasts was observed in the number and in ...
Tópico(s): Hippo pathway signaling and YAP/TAZ
1991 - The Company of Biologists | Journal of Cell Science
Michelle A. Clark, Anthony S. Weiss,
Hutchinson-Gilford Progeria Syndrome (progeria) is an extremely rare childhood disorder characterized by precocious senility which presents features similar to those seen in human aging. ... a consistent increase of the glycoprotein gp200 in progeria skin fibroblasts in vitro. Here we extend these ... evidence for the existence of two types of progeria skin fibroblasts. These two forms, called D- and ... In the D- group, DSA bound glycoproteins from progeria fibroblast strains AG03513B and AG10750 with markedly lower ...
Tópico(s): Cellular transport and secretion
1995 - Elsevier BV | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Kristof Nijs, Marc Van de Velde, Danny Feike Hoogma,
Abstract Background Hutchinson‐Gilford progeria syndrome is a rare disease in childhood that results in premature aging. The presence of multisystem derangements including skin, bone, ... literature on anesthesia for patients with Hutchinson‐Gilford progeria syndrome and to give recommendations for establishing the best practice for patients with Hutchinson‐Gilford progeria syndrome. Design A narrative review of the rare ... Articles addressing anesthesia in patients with Hutchinson‐Gilford progeria syndrome were included. Results An overview of the ...
Tópico(s): RNA Research and Splicing
2020 - Wiley | Pediatric Anesthesia
Douglas Ralph, Koen van de Wetering, Jouni Uitto, Qiaoli Li,
... calcification due to deficiency of CD73, ankylosis, and progeria. These hereditary disorders, caused by mutations in genes ... calcification due to deficiency of CD73, ankylosis, and progeria. These hereditary disorders, caused by mutations in genes ... Scholar The LmnaG609G/+ knock-in mouse model of progeria with excessive vascular calcification has increased CD39 and ... longevity in a mouse model of Hutchinson-Gilford progeria syndrome.Proc Natl Acad Sci U S A. ... calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment.Circulation. ...
Tópico(s): Parathyroid Disorders and Treatments
2022 - Elsevier BV | American Journal Of Pathology
Elisa Di Pasquale, Gianluigi Condorelli,
... Access Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis Elisa Di Pasquale Elisa Di Pasquale ... CitationsTrack CitationsPermissions ShareFacebookTwitterLinked InMendeleyWechatReddit Figures & Info Hutchinson–Gilford progeria syndrome (HGPS) is a rare pathology caused by ... point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423: 293–298CrossrefCASPubMedWeb of Science®Google ... death in a mouse model of Hutchinson-Gilford progeria syndrome. Circulation 138: 266–282CrossrefCASPubMedWeb of Science®Google ...
Tópico(s): Autophagy in Disease and Therapy
2019 - Springer Nature | EMBO Molecular Medicine