Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia

Timeless couples G‐quadruplex detection with processing by DDX 11 helicase during DNA replication

(2020) Leticia K Lerner et al.   EMBO JOURNAL

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

(2020) Janne J. M. van Schie et al.   Nature Communications

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

(2019) Roberta Bottega et al.   Molecular Genetics & Genomic Medicine

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

(2019) Rachel Rabin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Warsaw breakage syndrome: Further clinical and genetic delineation

(2018) Ebba Alkhunaizi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Interaction of the Warsaw breakage syndrome DNA helicase DDX11 with the replication fork-protection factor Timeless promotes sister chromatid cohesion

(2018) Giuseppe Cortone et al.   PLoS Genetics

Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11

(2018) Francesca Pisani et al.   Genes

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

(2017) Roberta Bottega et al.   HAEMATOLOGICA

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

(2017) Roberta Bottega et al.   HAEMATOLOGICA

Fanconi Anemia Proteins Function in Mitophagy and Immunity

(2016) Rhea Sumpter et al.   CELL

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

(2016) Silvia Ravera et al.   Scientific Reports

Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings

(2015) Claire Bailey et al.   European Journal of Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development

(2015) Xinliang Sun et al.   HUMAN MOLECULAR GENETICS

Functional Expression of Electron Transport Chain and FoF1-ATP Synthase in Optic Nerve Myelin Sheath

(2015) Martina Bartolucci et al.   NEUROCHEMICAL RESEARCH

XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage

(2015) J. Liu et al.   NUCLEIC ACIDS RESEARCH

Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway

(2015) Federica Calì et al.   NUCLEIC ACIDS RESEARCH

Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome

(2014) Sanjay Kumar Bharti et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Treatment of FANCA Cells with Resveratrol and N-Acetylcysteine: A Comparative Study

(2014) Marta Columbaro et al.   PLoS One

Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients

(2013) Cristina Capanni et al.   BIOCHIMIE

Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A

(2013) Silvia Ravera et al.   BIOCHIMIE

Specialization among Iron-Sulfur Cluster Helicases to Resolve G-quadruplex DNA Structures That Threaten Genomic Stability

(2013) Sanjay Kumar Bharti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evidence of mitochondrial dysfunction and impaired ROS detoxifying machinery in Fanconi Anemia cells

(2013) U Kumari et al.   ONCOGENE

Mitochondrial respiratory complex I defects in Fanconi anemia

(2013) Enrico Cappelli et al.   TRENDS IN MOLECULAR MEDICINE

Identification and Biochemical Characterization of a Novel Mutation inDDX11Causing Warsaw Breakage Syndrome

(2012) José-Mario Capo-Chichi et al.   HUMAN MUTATION

Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management

(2011) Giovanni Pagano et al.   BIOLOGICAL CHEMISTRY

Biochemical Characterization of Warsaw Breakage Syndrome Helicase

(2011) Yuliang Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

(2010) Petra van der Lelij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Real-time monitoring of RNA helicase activity using fluorescence resonance energy transfer in vitro

(2010) Hidenori Tani et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Human Timeless and Tipin stabilize replication forks and facilitate sister-chromatid cohesion

(2010) A. R. Leman et al.   JOURNAL OF CELL SCIENCE