Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
出版年份 2021 全文链接
标题
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
作者
关键词
-
出版物
BRAIN
Volume -, Issue -, Pages -
出版商
Oxford University Press (OUP)
发表日期
2021-02-13
DOI
10.1093/brain/awab056
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
- (2019) Chiara Diquigiovanni et al. FASEB JOURNAL
- The EMBL-EBI search and sequence analysis tools APIs in 2019
- (2019) Fábio Madeira et al. NUCLEIC ACIDS RESEARCH
- Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
- (2018) Claire Guissart et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations
- (2018) Qiuying Chen et al. Cell Metabolism
- Clinical syndromes associated with mtDNA mutations: where we stand after 30 years
- (2018) Valerio Carelli et al. Essays in Biochemistry
- Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer
- (2018) Chiara Diquigiovanni et al. INTERNATIONAL JOURNAL OF CANCER
- Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction
- (2018) Thomas J. Downes et al. JOURNAL OF CLINICAL GASTROENTEROLOGY
- Polymorphism rs1052536 in Base Excision Repair Gene Is a Risk Factor in a High-Risk Area of Neural Tube Defects in China
- (2018) Guannan Li et al. MEDICAL SCIENCE MONITOR
- The Pfam protein families database in 2019
- (2018) Sara El-Gebali et al. NUCLEIC ACIDS RESEARCH
- Polymorphisms in homologous recombination repair genes and the risk and survival of breast cancer
- (2017) Yu-Huang Liao et al. JOURNAL OF GENE MEDICINE
- INPS-MD: a web server to predict stability of protein variants from sequence and structure: Table 1.
- (2016) Castrense Savojardo et al. BIOINFORMATICS
- Clinical aspects of neurointestinal disease: Pathophysiology, diagnosis, and treatment
- (2016) Allan M. Goldstein et al. DEVELOPMENTAL BIOLOGY
- Impact of Single Nucleotide Polymorphisms of Base Excision Repair Genes on DNA Damage and Efficiency of DNA Repair in Recurrent Depression Disorder
- (2016) Piotr Czarny et al. MOLECULAR NEUROBIOLOGY
- Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options
- (2016) G. Di Nardo et al. NEUROGASTROENTEROLOGY AND MOTILITY
- Association between Single-Nucleotide Polymorphisms of the hOGG1,NEIL1,APEX1, FEN1,LIG1, and LIG3 Genes and Alzheimer's Disease Risk
- (2016) Dominik Kwiatkowski et al. NEUROPSYCHOBIOLOGY
- Hypoxia and metabolic adaptation of cancer cells
- (2016) K L Eales et al. Oncogenesis
- Supporting Aspartate Biosynthesis Is an Essential Function of Respiration in Proliferating Cells
- (2015) Lucas B. Sullivan et al. CELL
- Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction
- (2015) Elena Bonora et al. GASTROENTEROLOGY
- Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders
- (2015) E. Lazzeri et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Epigenetic control of intestinal barrier function and inflammation in zebrafish
- (2015) Lindsay Marjoram et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Overexpression of DNA ligase III in mitochondria protects cells against oxidative stress and improves mitochondrial DNA base excision repair
- (2014) Mansour Akbari et al. DNA REPAIR
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
- (2013) Carla Giordano et al. BRAIN
- Structure and function of the DNA ligases encoded by the mammalian LIG3 gene
- (2013) Alan E. Tomkinson et al. GENE
- Mitochondrial DNA Ligase Is Dispensable for the Viability of Cultured Cells but Essential for mtDNA Maintenance
- (2013) Inna N. Shokolenko et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
- (2013) Cornelia Kornblum et al. NATURE GENETICS
- The clinical maze of mitochondrial neurology
- (2013) Salvatore DiMauro et al. Nature Reviews Neurology
- Genetic Variation in the Base Excision Repair Pathway, Environmental Risk Factors, and Colorectal Adenoma Risk
- (2013) Roman Corral et al. PLoS One
- An Epidemiologic Survey of Chronic Intestinal Pseudo-Obstruction and Evaluation of the Newly Proposed Diagnostic Criteria
- (2012) Hidenori Ohkubo et al. DIGESTION
- A Water Soluble CoQ10 Formulation Improves Intracellular Distribution and Promotes Mitochondrial Respiration in Cultured Cells
- (2012) Christian Bergamini et al. PLoS One
- Metabolic reprogramming in cancer: Unraveling the role of glutamine in tumorigenesis
- (2012) Dania Daye et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Nucleosome Disruption by DNA Ligase III-XRCC1 Promotes Efficient Base Excision Repair
- (2011) I. D. Odell et al. MOLECULAR AND CELLULAR BIOLOGY
- Crucial role for DNA ligase III in mitochondria but not in Xrcc1-dependent repair
- (2011) Deniz Simsek et al. NATURE
- DNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repair
- (2011) Yankun Gao et al. NATURE
- The structural basis for partitioning of the XRCC1/DNA ligase III-α BRCT-mediated dimer complexes
- (2011) Matthew J. Cuneo et al. NUCLEIC ACIDS RESEARCH
- Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome
- (2010) D. Dimmock et al. CLINICAL CHEMISTRY
- DNA Repair Gene Polymorphisms and Risk of Pancreatic Cancer
- (2009) D. Li et al. CLINICAL CANCER RESEARCH
- Functional annotations improve the predictive score of human disease-related mutations in proteins
- (2009) Remo Calabrese et al. HUMAN MUTATION
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started