نتائج البحث - "Rosa Woldegebriel"

المساهمون: University of Helsinki, Faculty of Medicine, Research Programs Unit, Stem Cells And Metabolism Research Program, Doctoral Programme Brain and Mind, Helsingin yliopisto, lääketieteellinen tiedekunta, Aivot ja mieli tohtoriohjelma (B&M), Helsingfors universitet, medicinska fakulteten, Doktorandprogrammet i hjärn- och medvetandeforskning, Kennerson, Marina, Tyynismaa, Henna, Ylikallio, Emil

المصدر: University of Helsinki

مصطلحات موضوعية: human/medical genetics, neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4fb66eb1248323151f1e705ea9d2f929
http://hdl.handle.net/10138/329233

4

ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons

المؤلفون: Jana Pennonen, Markus T. Sainio, Svetlana M. Molchanova, Sandra Harjuhaahto, Jouni Kvist, Henna Tyynismaa, Tomi Taira, Emil Ylikallio, Hazem Ibrahim, Tiina S Rasila, Timo Otonkoski, Rubén Torregrosa-Muñumer, Svetlana Konovalova, Rosa Woldegebriel

المساهمون: Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, Centre of Excellence in Stem Cell Metabolism, Henna Tyynismaa / Principal Investigator, Helsinki One Health (HOH), HUS Children and Adolescents, Timo Pyry Juhani Otonkoski / Principal Investigator, Synaptic Plasticity and Neuronal Synchronization, Veterinary Biosciences, Tomi Taira / Principal Investigator, Neuroscience Center, Clinicum, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö, Helsinki University Hospital Area, Department of Medical and Clinical Genetics, Staff Services, Helsinki Institute of Life Science HiLIFE, Basal ganglia circuits

المصدر: Neurobiology of Disease, Vol 141, Iss, Pp 104940-(2020)

مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, POTENTIATION, ENERGY-METABOLISM, Mitochondrion, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, Membrane Potentials, GLUTAMATE, 0302 clinical medicine, Amyotrophic lateral sclerosis, Induced pluripotent stem cell, Motor Neurons, CMT2, Glutamate receptor, Long-term potentiation, Cell Differentiation, Parkinson Disease, RNA sequencing, Mitochondria, DNA-Binding Proteins, RECEPTORS, medicine.anatomical_structure, Neurology, PLURIPOTENT STEM-CELLS, CHCHD2, Induced Pluripotent Stem Cells, DPP6, Biology, lcsh:RC321-571, Mitochondrial Proteins, 03 medical and health sciences, medicine, Humans, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, CRISPR/Cas9, RELEASE, MUTATIONS, Amyotrophic Lateral Sclerosis, Motor neuron differentiation, 3112 Neurosciences, Spinal muscular atrophy, Motor neuron, medicine.disease, 030104 developmental biology, CHCHD10, SMAJ, Synapses, ALS, Transcriptome, Neuroscience, 030217 neurology & neurosurgery, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191057f2ef982386dd6e451124a5528c
http://hdl.handle.net/10138/317778

5

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

المساهمون: Centre of Excellence in Stem Cell Metabolism, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, University of Helsinki, HUS Children and Adolescents, Department of Pathology, Helsinki University Hospital Area, Research Program in Systems Oncology, HUSLAB, Precision Cancer Pathology, Olli Mikael Carpen / Principal Investigator, Clinicum, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö, Department of Medical and Clinical Genetics, Staff Services, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE

المصدر: Human Molecular Genetics, 29(9), 1426-1439. OXFORD UNIV PRESS
Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Male, PROMOTES, Protein Conformation, SAGA, RNA Transport, Transcriptome, INITIATION, 0302 clinical medicine, Transcription (biology), Gene expression, TRANSCRIPTION, Age of Onset, Child, Genetics (clinical), SAC3, Regulation of gene expression, Genetics, 0303 health sciences, TREX-2 COMPLEX, 1184 Genetics, developmental biology, physiology, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Peripheral Nervous System Diseases, General Medicine, Phenotype, Child, Preschool, Antigens, Surface, Female, General Article, MCM3AP, Biology, REGION, 03 medical and health sciences, Acetyltransferases, Intellectual Disability, Humans, RNA, Messenger, Molecular Biology, Transcription factor, Gene, 030304 developmental biology, Glycoproteins, Cell Nucleus, Flavoproteins, Intron, PATHWAYS, Phosphoproteins, Introns, Phosphoric Monoester Hydrolases, Exodeoxyribonucleases, Gene Expression Regulation, REPLICATION, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, Nervous System Diseases, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7780efc3f8291732bd404810d3e154b
https://openaccess.sgul.ac.uk/id/eprint/111823/1/ddaa051.pdf

6

Chchd10 or Chchd2 are not Required for Human Motor Neuron Differentiation In Vitro but Modify Synaptic Transcriptomes

المؤلفون: Sandra Harjuhaahto, Henna Tyynismaa, Jana Pennonen, Tomi Taira, Hazem Ibrahim, Markus T. Sainio, Svetlana M. Molchanova, Emil Ylikallio, Tiina S Rasila, Jouni Kvist, Timo Otonkoski, Svetlana Konovalova, Rosa Woldegebriel

مصطلحات موضوعية: 0303 health sciences, Mitochondrial intermembrane space, Spinal muscular atrophy, Motor neuron, Biology, medicine.disease, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Gene expression, medicine, Amyotrophic lateral sclerosis, Gene, Neuroscience, 030217 neurology & neurosurgery, Function (biology), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb243d187a42916be1085a7bf5882bf1

7

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

المؤلفون: Kai-Lan Lin, Pirjo Isohanni, Emil Ylikallio, Mari Auranen, Liliya Euro, Yang Yang, Helen M. Cooper, Eino Palin, Tuula Lönnqvist, Rafil Khairullin, Henna Tyynismaa, Sjoerd Wanrooij, Alexander Wolf, Seppo Kaakkola, Ras Trokovic, Rosa Woldegebriel

المساهمون: Biochemistry and Biotechnology, Institute for Molecular Medicine Finland, STEMM - Stem Cells and Metabolism Research Program, Doctoral Programme in Biomedicine, HUS Neurocenter, Research Programme for Molecular Neurology, Doctoral Programme Brain & Mind, Research Programs Unit, Clinicum, Children's Hospital, Anu Wartiovaara / Principal Investigator, Doctoral Programme in Clinical Research, HUS Children and Adolescents, Doctoral Programme in Drug Research, Henna Tyynismaa / Principal Investigator, Doctoral Programme in Integrative Life Science, Department of Medical and Clinical Genetics

المصدر: SCOPUS09646906-2017-26-8-SID85019164983
Hum. Mol. Genet. 26, 1432-1443 (2017)
Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, STRESS, ATPase, Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy), DE-NOVO, Mitochondrion, Mitochondrial Dynamics, Inner mitochondrial membrane, MUTATION, Genetics (clinical), 2. Zero hunger, Adenosine Triphosphatases, TOR Serine-Threonine Kinases, DEATH, 1184 Genetics, developmental biology, physiology, General Medicine, Articles, CANCER, AAA proteins, Mitochondria, medicine.anatomical_structure, Child, Preschool, Mitochondrial Membranes, Female, AUTOPHAGY, medicine.symptom, Adult, EXPRESSION, Adolescent, Hereditary spastic paraplegia, CEREBRAL-PALSY, Biology, Mitochondrial Proteins, 03 medical and health sciences, Lysosome, Genetics, medicine, Humans, Spasticity, Molecular Biology, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci), Spastic Paraplegia, Hereditary, Cerebral Palsy, Membrane Proteins, DEGRADATION, medicine.disease, Molecular biology, Axons, 030104 developmental biology, Membrane protein, Gene Expression Regulation, CELLS, biology.protein, ATPases Associated with Diverse Cellular Activities, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::210c54d3ff787f3c8e51837788980f84
http://hdl.handle.net/10138/189044

8

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

المساهمون: Research Programs Unit, Research Programme for Molecular Neurology, University of Helsinki, Clinicum, Department of Neurosciences, Neurologian yksikkö, Medicum, Genome-Scale Biology (GSB) Research Program, Anu Wartiovaara / Principal Investigator, Children's Hospital, Lastenneurologian yksikkö, Genome Stability Group, Henna Tyynismaa / Principal Investigator, Department of Medical and Clinical Genetics, HUS Children and Adolescents, HUS Neurocenter

المصدر: Brain
Brain, 140(8), 2093. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Male, Compound heterozygosity, DISEASE, 3124 Neurology and psychiatry, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Intellectual disability, GANP, TRANSCRIPTION, Nuclear protein, Child, Cells, Cultured, Giant axonal neuropathy, Genetics, Medicine(all), TREX-2 COMPLEX, Intracellular Signaling Peptides and Proteins, MESSENGER-RNA EXPORT, Pedigree, GIANT AXONAL NEUROPATHY, intellectual disability, Child, Preschool, DNA-REPAIR, Female, MUTATIONS CAUSE, Charcot-Marie-Tooth neuropathy, Adult, Retrograde Degeneration, Adolescent, MCM3AP, Clinical Neurology, Biology, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Acetyltransferases, medicine, Humans, Genetic Predisposition to Disease, Gene, mRNA export, DIFFERENTIATION-ASSOCIATED PROTEIN-1, 3112 Neurosciences, Heterozygote advantage, Fibroblasts, medicine.disease, GENE, 030104 developmental biology, Peripheral neuropathy, Mutation, Neurology (clinical), 3111 Biomedicine, Human medicine, 030217 neurology & neurosurgery

وصف الملف: pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b981bd91cf7559957e0c870603f20825
https://hdl.handle.net/10067/1451800151162165141

9

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

المؤلفون: Emil Ylikallio, Rosa Woldegebriel, Henna Tyynismaa

المصدر: Brain. 141:e67-e67

مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), RNA, Neurology (clinical), Biology, Nuclear export signal, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f3e7bf30cd942a849ee39124fcb116b
https://doi.org/10.1093/brain/awy185

10

Defects in mRNA export factor GANP cause peripheral neuropathy and misregulate intronless genes

المؤلفون: Rosa Woldegebriel, Katrin Ounap, Emilia Bijlsma, Murray Stewart, Emil Ylikallio, Henna Tyynismaa

المصدر: University of Helsinki
Web of Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::18b2b932ca8f94c4519cd9771fea9161
https://researchportal.helsinki.fi/en/publications/3deb6383-0487-4e75-8933-3577ce453566

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