Literature DB >> 29752965

RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

Junko Oshima1, Hisaya Kato2, Yoshiro Maezawa2, Koutaro Yokote2.   

Abstract

Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. The RecQ disorders Cockayne syndrome and xeroderma pigmentosum result from disease-causing DNA sequence variants in genes involved in the nucleotide excision repair pathway. RECQ2018: The International Meeting on RECQ Helicases and Related Diseases was held on February 16-18, 2018 in Chiba, Japan. The purpose of the meeting was to facilitate clinical and research collaborations for the goal of developing effective treatments for RECQ disorders and other progeroid syndromes.
Copyright © 2018 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Aging; Genomic instability; Progeroid syndrome; RECQ2018; Werner syndrome

Mesh:

Substances:

Year:  2018        PMID: 29752965      PMCID: PMC6217841          DOI: 10.1016/j.mad.2018.05.002

Source DB:  PubMed          Journal:  Mech Ageing Dev        ISSN: 0047-6374            Impact factor:   5.432


  29 in total

1.  Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs.

Authors:  Giang Huong Nguyen; Weiliang Tang; Ana I Robles; Richard P Beyer; Lucas T Gray; Judith A Welsh; Aaron J Schetter; Kensuke Kumamoto; Xin Wei Wang; Ian D Hickson; Nancy Maizels; Raymond J Monnat; Curtis C Harris
Journal:  Proc Natl Acad Sci U S A       Date:  2014-06-23       Impact factor: 11.205

2.  Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

Authors:  L L Wang; M L Levy; R A Lewis; M M Chintagumpala; D Lev; M Rogers; S E Plon
Journal:  Am J Med Genet       Date:  2001-07-22

Review 3.  Roles of mitochondrial ubiquitin ligase MITOL/MARCH5 in mitochondrial dynamics and diseases.

Authors:  Shun Nagashima; Takeshi Tokuyama; Ryo Yonashiro; Ryoko Inatome; Shigeru Yanagi
Journal:  J Biochem       Date:  2014-03-09       Impact factor: 3.387

4.  The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.

Authors:  Weiliang Tang; Ana I Robles; Richard P Beyer; Lucas T Gray; Giang H Nguyen; Junko Oshima; Nancy Maizels; Curtis C Harris; Raymond J Monnat
Journal:  Hum Mol Genet       Date:  2016-03-16       Impact factor: 6.150

5.  Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss.

Authors:  Makoto Hosoya; Masato Fujioka; Takefumi Sone; Satoshi Okamoto; Wado Akamatsu; Hideki Ukai; Hiroki R Ueda; Kaoru Ogawa; Tatsuo Matsunaga; Hideyuki Okano
Journal:  Cell Rep       Date:  2017-01-03       Impact factor: 9.423

6.  RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.

Authors:  Siddharth De; Jyoti Kumari; Richa Mudgal; Priyanka Modi; Shruti Gupta; Kazunobu Futami; Hideyuki Goto; Noralane M Lindor; Yasuhiro Furuichi; Debasisa Mohanty; Sagar Sengupta
Journal:  J Cell Sci       Date:  2012-02-22       Impact factor: 5.285

Review 7.  Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.

Authors:  Junko Oshima; Julia M Sidorova; Raymond J Monnat
Journal:  Ageing Res Rev       Date:  2016-03-15       Impact factor: 10.895

Review 8.  Molecular mechanisms of DNA damage recognition for mammalian nucleotide excision repair.

Authors:  Kaoru Sugasawa
Journal:  DNA Repair (Amst)       Date:  2016-05-20

9.  Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey.

Authors:  Minoru Takemoto; Seijiro Mori; Masafumi Kuzuya; Shinya Yoshimoto; Akira Shimamoto; Masahiko Igarashi; Yasuhito Tanaka; Tetsuro Miki; Koutaro Yokote
Journal:  Geriatr Gerontol Int       Date:  2012-07-23       Impact factor: 3.387

10.  Rapamycin decreases DNA damage accumulation and enhances cell growth of WRN-deficient human fibroblasts.

Authors:  Bidisha Saha; Alexander Cypro; George M Martin; Junko Oshima
Journal:  Aging Cell       Date:  2014-02-05       Impact factor: 9.304

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  3 in total

Review 1.  How Important Are Genes to Achieve Longevity?

Authors:  Calogero Caruso; Mattia Emanuela Ligotti; Giulia Accardi; Anna Aiello; Giovanni Duro; Damiano Galimberti; Giuseppina Candore
Journal:  Int J Mol Sci       Date:  2022-05-18       Impact factor: 6.208

Review 2.  Human RecQ Helicases in DNA Double-Strand Break Repair.

Authors:  Huiming Lu; Anthony J Davis
Journal:  Front Cell Dev Biol       Date:  2021-02-25

Review 3.  Replication Stress at Telomeric and Mitochondrial DNA: Common Origins and Consequences on Ageing.

Authors:  Pauline Billard; Delphine A Poncet
Journal:  Int J Mol Sci       Date:  2019-10-08       Impact factor: 5.923

  3 in total

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