Suchergebnisse - "DIVERSE"

Lipid bilayer properties govern substrate engagement and extraction by the AAA+ ATPase Msp1.

Autoren: Fresenius HL Acquaviva B Gaur D et al.

Quelle: The Journal of biological chemistry [J Biol Chem] 2025 Oct; Vol. 301 (10), pp. 110614. Date of Electronic Publication: 2025 Aug 19.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

MeSH-Schlagworte: Lipid Bilayers*/metabolism , Lipid Bilayers*/chemistry , Saccharomyces cerevisiae Proteins*/metabolism , Saccharomyces cerevisiae Proteins*/chemistry , Saccharomyces cerevisiae Proteins*/genetics , Adenosine Triphosphatases*/metabolism , Adenosine Triphosphatases*/chemistry , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/chemistry , Saccharomyces cerevisiae*/enzymology , Saccharomyces cerevisiae*/metabolism, Substrate Specificity ; Mitochondrial Membranes/metabolism

ATAD3A deficiency induces oxidative eustress via the complex I reverse electron transport.

Autoren: Meng J Li X Hu M et al.

Quelle: Free radical biology & medicine [Free Radic Biol Med] 2025 Dec 16; Vol. 241, pp. 137-149. Date of Electronic Publication: 2025 Sep 15.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8709159 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4596 (Electronic) Linking ISSN: 08915849 NLM ISO Abbreviation: Free Radic Biol Med Subsets: MEDLINE

MeSH-Schlagworte: ATPases Associated with Diverse Cellular Activities*/genetics , ATPases Associated with Diverse Cellular Activities*/deficiency , ATPases Associated with Diverse Cellular Activities*/metabolism , Mitochondria*/metabolism , Mitochondria*/genetics , Electron Transport Complex I*/metabolism , Electron Transport Complex I*/genetics , Oxidative Stress* , Mitochondrial Proteins*/genetics , Mitochondrial Proteins*/metabolism , Mitochondrial Proteins*/deficiency , Membrane Proteins*/genetics , Membrane Proteins*/metabolism , Membrane Proteins*/deficiency, Animals ; Humans ; Reactive Oxygen Species/metabolism ; Oxidation-Reduction ; Electron Transport ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Membrane Potential, Mitochondrial

Single-Molecule Structures and Kinetics of the AAA-ATPase Bcs1 Translocating Folded ISP.

Autoren: Pan Y Zhan J Wang Z et al.

Quelle: Journal of molecular biology [J Mol Biol] 2025 Dec 15; Vol. 437 (24), pp. 169531. Date of Electronic Publication: 2025 Nov 01.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 2985088R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1089-8638 (Electronic) Linking ISSN: 00222836 NLM ISO Abbreviation: J Mol Biol Subsets: MEDLINE

MeSH-Schlagworte: ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/chemistry , Saccharomyces cerevisiae Proteins*/metabolism , Saccharomyces cerevisiae Proteins*/chemistry , Mitochondrial Proteins*/metabolism , Mitochondrial Proteins*/chemistry , Electron Transport Complex III*/metabolism , Electron Transport Complex III*/chemistry , Iron-Sulfur Proteins*/metabolism , Iron-Sulfur Proteins*/chemistry , Adenosine Triphosphatases*/metabolism , Adenosine Triphosphatases*/chemistry, Kinetics ; Single Molecule Imaging ; Protein Folding ; Microscopy, Atomic Force ; Protein Conformation ; Protein Binding ; Saccharomyces cerevisiae/metabolism ; Adenosine Diphosphate/metabolism ; Molecular Chaperones

Identification of RUVBL2 as a novel biomarker to predict the prognosis and drug sensitivity in multiple myeloma based on ferroptosis genes.

Autoren: Tang S Long X Li F et al.

Quelle: Hematology (Amsterdam, Netherlands) [Hematology] 2025 Dec; Vol. 30 (1), pp. 2467499. Date of Electronic Publication: 2025 Feb 21.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE

MeSH-Schlagworte: Multiple Myeloma*/genetics , Multiple Myeloma*/drug therapy , Multiple Myeloma*/metabolism , Multiple Myeloma*/mortality , Ferroptosis*/genetics , Biomarkers, Tumor*/genetics , Biomarkers, Tumor*/metabolism , ATPases Associated with Diverse Cellular Activities*/genetics , ATPases Associated with Diverse Cellular Activities*/metabolism , DNA Helicases*/genetics , DNA Helicases*/metabolism , Drug Resistance, Neoplasm*/genetics, Humans ; Prognosis ; Cell Line, Tumor ; Gene Expression Regulation, Neoplastic ; Carrier Proteins

KLF5 enables dichotomous lineage programs in pancreatic cancer via the AAA+ ATPase coactivators RUVBL1 and RUVBL2.

Autoren: Cunniff PJ Sivetz N Skopelitis D et al.

Quelle: Nature communications [Nat Commun] 2025 Nov 15; Vol. 16 (1), pp. 9996. Date of Electronic Publication: 2025 Nov 15.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

MeSH-Schlagworte: Pancreatic Neoplasms*/genetics , Pancreatic Neoplasms*/metabolism , Pancreatic Neoplasms*/pathology , Kruppel-Like Transcription Factors*/metabolism , Kruppel-Like Transcription Factors*/genetics , Carcinoma, Pancreatic Ductal*/genetics , Carcinoma, Pancreatic Ductal*/metabolism , Carcinoma, Pancreatic Ductal*/pathology , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/genetics , ATPases Associated with Diverse Cellular Activities*/antagonists & inhibitors , DNA Helicases*/metabolism , DNA Helicases*/genetics , Carrier Proteins*/metabolism , Carrier Proteins*/genetics, Humans ; Animals ; Cell Line, Tumor ; Gene Expression Regulation, Neoplastic ; Mice ; Cell Lineage/genetics ; Adenosine Triphosphate/metabolism

Elevated FBXL6 activates ATAD3A through K63-linked polyubiquitination and promotes the malignant progression of TNBC via metabolic reprogramming.

Autoren: Wu Y Pan J Wei J et al.

Quelle: International journal of biological macromolecules [Int J Biol Macromol] 2025 Nov; Vol. 329 (Pt 2), pp. 147713. Date of Electronic Publication: 2025 Sep 18.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0003 (Electronic) Linking ISSN: 01418130 NLM ISO Abbreviation: Int J Biol Macromol Subsets: MEDLINE

MeSH-Schlagworte: Ubiquitination* , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/genetics , Triple Negative Breast Neoplasms*/pathology , Triple Negative Breast Neoplasms*/metabolism , Triple Negative Breast Neoplasms*/genetics , Ubiquitin-Protein Ligases*/metabolism , Ubiquitin-Protein Ligases*/genetics , Membrane Proteins*/metabolism , Membrane Proteins*/genetics , F-Box Proteins*/metabolism , F-Box Proteins*/genetics, Humans ; Animals ; Female ; Cell Line, Tumor ; Disease Progression ; Mice ; Gene Expression Regulation, Neoplastic ; Cell Proliferation ; Prognosis ; Metabolic Reprogramming

Empagliflozin-pretreated BMSC exosomes attenuate myocardial ischemia-reperfusion injury by enhancing atad3a/pink1-dependent mitophagy.

Autoren: Jing Y Cai Y Li Q et al.

Quelle: Stem cell research & therapy [Stem Cell Res Ther] 2025 Oct 29; Vol. 16 (1), pp. 595. Date of Electronic Publication: 2025 Oct 29.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512 (Electronic) Linking ISSN: 17576512 NLM ISO Abbreviation: Stem Cell Res Ther Subsets: MEDLINE

MeSH-Schlagworte: Exosomes*/metabolism , Exosomes*/drug effects , Benzhydryl Compounds*/pharmacology , Glucosides*/pharmacology , Myocardial Reperfusion Injury*/metabolism , Myocardial Reperfusion Injury*/therapy , Myocardial Reperfusion Injury*/pathology , Mitophagy*/drug effects , Mesenchymal Stem Cells*/metabolism , Mesenchymal Stem Cells*/drug effects , Mesenchymal Stem Cells*/cytology , Protein Kinases*/metabolism , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/genetics , Membrane Proteins*/metabolism , Mitochondrial Proteins*/metabolism, Animals ; Mice ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/drug effects ; Mice, Inbred C57BL ; Male ; Sodium-Glucose Transporter 2 Inhibitors/pharmacology ; Apoptosis/drug effects

Elastic analysis bridges structure and dynamics of an AAA+ molecular motor.

Autoren: Mello VH Wald J Marlovits TC et al.

Quelle: PLoS computational biology [PLoS Comput Biol] 2025 Oct 24; Vol. 21 (10), pp. e1013596. Date of Electronic Publication: 2025 Oct 24 (Print Publication: 2025).

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7358 (Electronic) Linking ISSN: 1553734X NLM ISO Abbreviation: PLoS Comput Biol Subsets: MEDLINE

MeSH-Schlagworte: Molecular Motor Proteins*/chemistry , Molecular Motor Proteins*/metabolism , ATPases Associated with Diverse Cellular Activities*/chemistry , ATPases Associated with Diverse Cellular Activities*/metabolism , Adenosine Triphosphatases*/chemistry , Adenosine Triphosphatases*/metabolism, Elasticity ; Protein Conformation ; Cryoelectron Microscopy ; Models, Molecular ; Computational Biology

P4HA2 interacted with ATAD3A to modulate PINK1/parkin-dependent mitophagy and ¹²⁵ I brachytherapy sensitization in esophageal carcinoma.

Autoren: Yao X Feng C Huang X et al.

Quelle: Cell death & disease [Cell Death Dis] 2025 Oct 06; Vol. 16 (1), pp. 685. Date of Electronic Publication: 2025 Oct 06.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

MeSH-Schlagworte: Mitophagy*/radiation effects , Esophageal Neoplasms*/radiotherapy , Esophageal Neoplasms*/metabolism , Esophageal Neoplasms*/pathology , Esophageal Neoplasms*/genetics , Mitochondrial Proteins*/metabolism , Mitochondrial Proteins*/genetics , Ubiquitin-Protein Ligases*/metabolism , Iodine Radioisotopes*/therapeutic use , Iodine Radioisotopes*/pharmacology , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/genetics , Membrane Proteins*/metabolism , Membrane Proteins*/genetics , Protein Kinases*/metabolism , Protein Kinases*/genetics , Brachytherapy*/methods, Humans ; Cell Line, Tumor ; Animals ; Mice ; Mice, Nude ; Female ; Mitochondria/metabolism ; Male ; Radiation Tolerance

Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.

Autoren: Alayoubi AM Ijaz A Wali A et al.

Quelle: Annals of medicine [Ann Med] 2025 Dec; Vol. 57 (1), pp. 2447400. Date of Electronic Publication: 2025 Jan 06.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8906388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2060 (Electronic) Linking ISSN: 07853890 NLM ISO Abbreviation: Ann Med Subsets: MEDLINE

MeSH-Schlagworte: Zellweger Syndrome*/genetics , Membrane Proteins*/genetics , ATPases Associated with Diverse Cellular Activities*/genetics , Pedigree*, Humans ; Saudi Arabia ; Male ; Female ; Exome Sequencing ; Mutation ; Child ; Codon, Nonsense/genetics ; Child, Preschool ; Peroxins/genetics

TRIP13-induced NUSAP1 upregulation promotes CcRCC progression through EMT and PI3K/AKT/mTOR pathway.

Autoren: Chen X Wang Q Zhu Z et al.

Quelle: Journal of translational medicine [J Transl Med] 2025 Aug 11; Vol. 23 (1), pp. 890. Date of Electronic Publication: 2025 Aug 11.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE

MeSH-Schlagworte: Epithelial-Mesenchymal Transition*/genetics , TOR Serine-Threonine Kinases*/metabolism , Proto-Oncogene Proteins c-akt*/metabolism , Phosphatidylinositol 3-Kinases*/metabolism , Up-Regulation*/genetics , Carcinoma, Renal Cell*/pathology , Carcinoma, Renal Cell*/genetics , Carcinoma, Renal Cell*/metabolism , Signal Transduction* , Disease Progression* , Kidney Neoplasms*/pathology , Kidney Neoplasms*/genetics , Kidney Neoplasms*/metabolism , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/genetics , Cell Cycle Proteins*/metabolism , Cell Cycle Proteins*/genetics, Humans ; Animals ; Cell Line, Tumor ; Mice, Nude ; Cell Proliferation/genetics ; Cell Movement/genetics ; Female ; Gene Expression Regulation, Neoplastic ; Male ; Apoptosis/genetics ; Mice ; Prognosis ; Neoplasm Invasiveness ; Mice, Inbred BALB C

Overcoming fluorescence loss in mEOS-based AAA+ unfoldase reporters through covalent linkage.

Autoren: Walter IR Smith BA Castanzo D et al.

Quelle: Protein expression and purification [Protein Expr Purif] 2025 Aug; Vol. 232, pp. 106724. Date of Electronic Publication: 2025 Apr 28.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: United States NLM ID: 9101496 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0279 (Electronic) Linking ISSN: 10465928 NLM ISO Abbreviation: Protein Expr Purif Subsets: MEDLINE

MeSH-Schlagworte: ATPases Associated with Diverse Cellular Activities*/genetics , ATPases Associated with Diverse Cellular Activities*/chemistry , ATPases Associated with Diverse Cellular Activities*/metabolism , Luminescent Proteins*/chemistry , Luminescent Proteins*/genetics , Luminescent Proteins*/metabolism , Membrane Proteins*/chemistry , Membrane Proteins*/genetics , Membrane Proteins*/metabolism , Bacterial Proteins*/genetics , Bacterial Proteins*/chemistry , Bacterial Proteins*/metabolism, Fluorescence ; Recombinant Fusion Proteins/genetics ; Recombinant Fusion Proteins/chemistry ; Recombinant Fusion Proteins/metabolism ; Aminoacyltransferases/chemistry ; Aminoacyltransferases/genetics ; Aminoacyltransferases/metabolism ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Cysteine Endopeptidases/chemistry ; Cysteine Endopeptidases/metabolism ; Cysteine Endopeptidases/genetics

PSMC2 upregulation enhances epithelial-to-mesenchymal transition in glioblastoma via activating AKT/GSK3β/β-catenin axis.

Autoren: Roy PK Deepak K Kola P et al.

Quelle: Cellular signalling [Cell Signal] 2025 Aug; Vol. 132, pp. 111809. Date of Electronic Publication: 2025 Apr 13.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 8904683 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3913 (Electronic) Linking ISSN: 08986568 NLM ISO Abbreviation: Cell Signal Subsets: MEDLINE

MeSH-Schlagworte: Glioblastoma*/pathology , Glioblastoma*/metabolism , Glioblastoma*/genetics , Epithelial-Mesenchymal Transition*/genetics , Glycogen Synthase Kinase 3 beta*/metabolism , beta Catenin*/metabolism , Proto-Oncogene Proteins c-akt*/metabolism , Brain Neoplasms*/pathology , Brain Neoplasms*/metabolism , Brain Neoplasms*/genetics , Proteasome Endopeptidase Complex*/metabolism , Proteasome Endopeptidase Complex*/genetics , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/genetics, Humans ; Cell Line, Tumor ; Up-Regulation ; Animals ; Signal Transduction ; Mice ; Cell Proliferation ; Mice, Nude ; Female ; Cell Movement ; Male ; Apoptosis ; Gene Expression Regulation, Neoplastic

Comprehensive pan-cancer multi-omics analysis of ATAD2 in human cancers.

Autoren: Liang S Liu H Su Q et al.

Quelle: Medicine [Medicine (Baltimore)] 2025 Jul 18; Vol. 104 (29), pp. e42396.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

MeSH-Schlagworte: ATPases Associated with Diverse Cellular Activities*/genetics , ATPases Associated with Diverse Cellular Activities*/metabolism , Neoplasms*/genetics , Neoplasms*/mortality , Neoplasms*/therapy , DNA-Binding Proteins*/genetics , DNA-Binding Proteins*/metabolism, Humans ; Prognosis ; Biomarkers, Tumor/genetics ; Tumor Microenvironment/genetics ; Tumor Microenvironment/immunology ; Gene Expression Regulation, Neoplastic ; Signal Transduction ; Microsatellite Instability ; Multiomics

Profiling of RUVBL2-Induced Transcriptome Alterations Highlights a Critical Role for Chromatin Remodeling in Ovarian Cancer.

Autoren: Xue R Wang Y Luo X et al.

Quelle: BioFactors (Oxford, England) [Biofactors] 2025 Jul-Aug; Vol. 51 (4), pp. e70041.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley Country of Publication: Netherlands NLM ID: 8807441 Publication Model: Print Cited Medium: Internet ISSN: 1872-8081 (Electronic) Linking ISSN: 09516433 NLM ISO Abbreviation: Biofactors Subsets: MEDLINE

MeSH-Schlagworte: Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/pathology , Ovarian Neoplasms*/metabolism , Chromatin Assembly and Disassembly*/genetics , ATPases Associated with Diverse Cellular Activities*/genetics , ATPases Associated with Diverse Cellular Activities*/metabolism , DNA Helicases*/genetics , DNA Helicases*/metabolism , Transcriptome*/genetics , Carrier Proteins*/genetics , Carrier Proteins*/metabolism, Humans ; Female ; Gene Expression Regulation, Neoplastic ; Cell Line, Tumor ; Epigenesis, Genetic

Mechanistic insights into Bcs1-mediated mitochondrial membrane translocation of the folded Rieske protein.

Autoren: Rosales-Hernandez C Thoms M Berninghausen O et al.

Quelle: The EMBO journal [EMBO J] 2025 Jul; Vol. 44 (13), pp. 3720-3741. Date of Electronic Publication: 2025 May 23.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

MeSH-Schlagworte: Electron Transport Complex III*/metabolism , Electron Transport Complex III*/chemistry , Electron Transport Complex III*/genetics , Mitochondrial Membranes*/metabolism , ATPases Associated with Diverse Cellular Activities*/metabolism , ATPases Associated with Diverse Cellular Activities*/chemistry , ATPases Associated with Diverse Cellular Activities*/genetics , Saccharomyces cerevisiae Proteins*/metabolism , Saccharomyces cerevisiae Proteins*/chemistry , Saccharomyces cerevisiae Proteins*/genetics , Mitochondrial Proteins*/metabolism , Mitochondrial Proteins*/chemistry , Saccharomyces cerevisiae*/metabolism , Saccharomyces cerevisiae*/genetics, Cryoelectron Microscopy ; Protein Transport ; Protein Folding ; Mitochondria/metabolism ; Adenosine Triphosphate/metabolism ; Protein Conformation ; Molecular Chaperones

Atad1 Is a Potential Candidate Gene for Prepulse Inhibition.

Autoren: Bajpai AK Freels TG Lu L et al.

Quelle: Genes [Genes (Basel)] 2025 Sep 26; Vol. 16 (10). Date of Electronic Publication: 2025 Sep 26.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

MeSH-Schlagworte: Prepulse Inhibition*/genetics , ATPases Associated with Diverse Cellular Activities*/genetics , Schizophrenia*/genetics, Animals ; Male ; Mice ; Humans ; Quantitative Trait Loci/genetics ; Female ; Genome-Wide Association Study

WRN and WRNIP1 ATPases impose high fidelity on translesion synthesis by Y-family DNA polymerases.

Autoren: Yoon JH Sellamuthu K Prakash L et al.

Quelle: ELife [Elife] 2025 Sep 03; Vol. 14. Date of Electronic Publication: 2025 Sep 03.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

MeSH-Schlagworte: Werner Syndrome Helicase*/metabolism , Werner Syndrome Helicase*/genetics , DNA-Directed DNA Polymerase*/metabolism , ATPases Associated with Diverse Cellular Activities*/metabolism , DNA Repair* , Adenosine Triphosphatases*/metabolism , RecQ Helicases*/metabolism, Humans ; DNA Damage ; DNA Replication ; Translesion DNA Synthesis ; DNA-Binding Proteins

BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

Autoren: Orbach R Maio N Butterfield RJ et al.

Quelle: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2025 Sep; Vol. 12 (9), pp. 1834-1845. Date of Electronic Publication: 2025 Jul 14.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

MeSH-Schlagworte: 5' Untranslated Regions*/genetics , ATPases Associated with Diverse Cellular Activities*/genetics, Humans ; Phenotype ; Male ; Female ; Mutation, Missense ; Pedigree

Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.

Autoren: Kantaputra PN Apivatthakakul A Kaewgahya M et al.

Quelle: International dental journal [Int Dent J] 2025 Aug; Vol. 75 (4), pp. 100821. Date of Electronic Publication: 2025 Jun 03.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: England NLM ID: 0374714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1875-595X (Electronic) Linking ISSN: 00206539 NLM ISO Abbreviation: Int Dent J Subsets: MEDLINE

MeSH-Schlagworte: Amelogenesis Imperfecta*/genetics , Anodontia*/genetics , Retinitis Pigmentosa*/genetics , ATPases Associated with Diverse Cellular Activities*/genetics , Hearing Loss, Sensorineural*/genetics , Tooth Root*/abnormalities , Membrane Proteins*/genetics, Humans ; Male ; Adolescent ; Mutation ; Dental Enamel/abnormalities ; Nails, Malformed/genetics ; Tooth Abnormalities/genetics ; Microscopy, Electron, Scanning