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Journal Article
Nature: international weekly journal of science, ISSN 0028-0836, 01/2017, Volume 541, Issue 7635, pp. 87 - 91
textabstractXRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair. Here we show that... 
POLY(ADP-RIBOSE) POLYMERASE | CELLS | RATES | STRAND BREAK REPAIR | SPINOCEREBELLAR ATAXIA | REPLICATION | BASE EXCISION-REPAIR | GENE | DNA | MULTIDISCIPLINARY SCIENCES | DISEASE | Chromatin - metabolism | Humans | Adenosine Diphosphate Ribose - metabolism | DNA Repair Enzymes - genetics | Male | DNA Repair - genetics | DNA-Binding Proteins - deficiency | DNA Breaks, Single-Stranded | DNA-Binding Proteins - metabolism | Apraxias - congenital | Apraxias - genetics | DNA Repair Enzymes - metabolism | Poly (ADP-Ribose) Polymerase-1 - deficiency | Female | Ataxia - genetics | Cogan Syndrome - genetics | Cerebellum - metabolism | Phosphotransferases (Alcohol Group Acceptor) - genetics | Poly (ADP-Ribose) Polymerase-1 - metabolism | Cerebellar Ataxia - pathology | DNA-Binding Proteins - genetics | Interneurons - pathology | Cerebellum - pathology | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Phenotype | Animals | Cerebellar Ataxia - genetics | Interneurons - metabolism | Pedigree | Axons - pathology | Alleles | Mice | Mutation | X-ray Repair Cross Complementing Protein 1 | Poly (ADP-Ribose) Polymerase-1 - genetics | Genetic aspects | Gene mutations | Health aspects | Cerebellar ataxia | Proteins | Studies | Genotype & phenotype | Disease | Fibroblasts | Ataxia | Peripheral neuropathy | Patients | Deoxyribonucleic acid--DNA
Journal Article
EMBO Journal, ISSN 0261-4189, 06/2015, Volume 34, Issue 12, pp. 1612 - 1629
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 5, pp. 510 - 515
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 04/2018, Volume 14, Issue 4, p. e1007363
textabstractThe hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb... 
INTELLECTUAL DISABILITY | RECESSIVE LOSS | COMPLEX-4 AP-4 | HEREDITARY SPASTIC PARAPLEGIA | ALZHEIMERS-DISEASE | CORPUS-CALLOSUM | ADAPTER | GENETICS & HEREDITY | VICI SYNDROME | AMYLOID PRECURSOR PROTEIN | AUTOPHAGY | Receptors, Glutamate - metabolism | Spastic Paraplegia, Hereditary - genetics | Spinal Cord - metabolism | Vesicular Transport Proteins - metabolism | Humans | Adaptor Protein Complex 4 - chemistry | Male | Adaptor Protein Complex 4 - genetics | Spastic Paraplegia, Hereditary - metabolism | Brain - metabolism | trans-Golgi Network - metabolism | Protein Aggregates - genetics | Spinal Cord - pathology | Adaptor Protein Complex 4 - deficiency | Female | Membrane Proteins - metabolism | Neurons - metabolism | Spastic Paraplegia, Hereditary - pathology | Protein Aggregation, Pathological - genetics | Disease Models, Animal | Adaptor Protein Complex Subunits - deficiency | Huntingtin Protein - metabolism | Mice, Inbred C57BL | Axons - metabolism | Behavior, Animal - physiology | Adaptor Protein Complex Subunits - chemistry | Huntingtin Protein - chemistry | Mice, Knockout | Animals | Brain - pathology | Mice | Huntingtin Protein - genetics | Mutation | Autophagy-Related Proteins - metabolism | Adaptor Protein Complex Subunits - genetics | Protein Aggregation, Pathological - metabolism | Development and progression | Genetic aspects | Diagnosis | Paralysis, Spastic | Spinal cord | Neurosciences | Huntingtin | Funding | Intellectual disabilities | Genes | Neurobiology | Childrens health | Biology | Microcephaly | Autophagy | Proteins | Fibroblasts | Paralysis | Seizures | Phenotypes | Language disorders | Neurons | Spasticity | Corpus callosum | Golgi apparatus | Axons | Microencephaly | Skin | Dystrophy | Phagocytosis | Cytoplasm
Journal Article
Human Mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 8, pp. 755 - 764
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 695 - 702
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 4, S1-2
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1021 - 1028
textabstractInfantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal... 
Cerebellar atrophy | Basal ganglia | Intellectual disability | Optic atrophy | Retinopathy | SCAR5 | Galloway-Mowat | WDR73 | optic atrophy | basal ganglia | retinopathy | cerebellar atrophy | Galloway–Mowat | intellectual disability | PROTEIN | ATROPHY | CONGENITAL CEREBELLAR-ATAXIA | PATTERNS | FAMILY | GENE | GALLOWAY-MOWAT-SYNDROME | GENETICS & HEREDITY | DISORDER | NEPHROTIC SYNDROME | CAMOS | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Microcephaly - genetics | Humans | Child, Preschool | Glomerulonephritis - diagnosis | Molecular Sequence Data | Male | Brain - abnormalities | Young Adult | Hernia, Hiatal - genetics | DNA Mutational Analysis | Nephrosis - diagnosis | Adult | Female | Child | Amino Acid Sequence | Genetic Association Studies | Glomerulonephritis - genetics | Microcephaly - diagnosis | Heredodegenerative Disorders, Nervous System - diagnosis | Nephrosis - genetics | Proteins - genetics | Phenotype | Sequence Alignment | Biopsy | Pedigree | Adolescent | Brain - pathology | Mutation | Proteins - chemistry | Hernia, Hiatal - diagnosis | Cohort Studies | Genetic aspects | Diagnostic imaging | Kidney diseases | Mental illness | Neurodegeneration | Intellectual disabilities | Life Sciences | Human health and pathology | Genetics | Human genetics | short stature | exome sequencing | Galloway-Mowat syndrome | recessive
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 05/2017, Volume 13, Issue 5, p. e1006809
textabstractIntegrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and... 
RNA-POLYMERASE-II | NEURONAL DEVELOPMENT | MALFORMATIONS | PROTEIN | SPLICING REGULATION | EMBRYO | 3' END FORMATION | U4ATAC SNRNA | GENETICS & HEREDITY | GENE-EXPRESSION | CORTICAL DEVELOPMENT | Wnt1 Protein | Alternative Splicing | Humans | Transcriptome | Male | Developmental Disabilities - genetics | Brain - growth & development | Mutation, Missense | RNA, Messenger - metabolism | Protein Subunits - metabolism | Brain - metabolism | Gene Deletion | HEK293 Cells | Adult | Female | Child | Developmental Disabilities - diagnosis | Fibroblasts - metabolism | Protein Subunits - genetics | RNA, Messenger - genetics | Cells, Cultured | Syndrome | Pedigree | Brain - pathology | Heterozygote | HeLa Cells | Mutation | Brain | Care and treatment | Research | Gene mutations | Abnormalities | RNA polymerases | Pediatrics | Alternative splicing | Transcription | Leukocyte migration | Gene regulation | Disorders | Colleges & universities | Editing | Genomes | Biochemistry | Gene deletion | Neurodevelopmental disorders | DNA-directed RNA polymerase | Delay | Defects | Proteins | Control | Missense mutation | Clonal deletion | RNA processing | Bioinformatics | Ventricle (lateral) | Siblings | Maturation | Cortex | RNA polymerase | Gene expression | Ribonucleic acid--RNA | Patients | Medicine | Polymerase | Brain research | Cellular biology | Genetic engineering | Molecular biology | Differentiation | Compatibility | Retinoic acid | Cell migration | RNA polymerase II | Integrity | RNA | Ribonucleic acid
Journal Article