نتائج البحث - "mitochondrial transporter"

1

Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones

المؤلفون: Akira Wiberg, Edmund R.S. Kunji, M. Reza Jabalameli, Fiona M. Fitzpatrick, Gary Leggatt, Sarah Ennis, Sarah A. Howles, Valerie Walker, Roberto Colombo

المساهمون: Apollo - University of Cambridge Repository, Kunji, Edmund [0000-0002-0610-4500]

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Male, Protein Conformation, QH426-470, Mitochondrial Membrane Transport Proteins, Genetics (clinical), Exome sequencing, Biological Specimen Banks, Genetics, Kidney, Middle Aged, Penetrance, Pedigree, medicine.anatomical_structure, Genes, Mitochondrial, Female, Symptom Assessment, purinergic signaling, calcium kidney stones, Adult, Adolescent, Genotype, Biology, calcium signaling, Polymorphism, Single Nucleotide, mitochondrial transporter, mitochondrial adenine nucleotide metastasis, Kidney Calculi, Structure-Activity Relationship, Young Adult, Exome Sequencing, medicine, Humans, Family, Genetic Predisposition to Disease, Amino Acid Sequence, Molecular Biology, Gene, ORIGINAL ARTICLE, Alleles, Aged, ATP transport, Calcium-Binding Proteins, Wild type, Genetic Variation, medicine.disease, United Kingdom, Kidney stones, ORIGINAL ARTICLES, Biomarkers, Reference genome

وصف الملف: text; application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b9519d77b13e4584dd244d12581ce38Test

2

Drosophila melanogaster Mitochondrial Carriers: Similarities and Differences with the Human Carriers

المؤلفون: Alessandra Ferramosca, Rosita Curcio, Vincenzo Zara, Loredana Capobianco, Federica Marra, Paola Lunetti, Vincenza Dolce, Francesco De Leonardis, Giuseppe Fiermonte, Anna Rita Cappello

المساهمون: Curcio, Rosita, Lunetti, Paola, Zara, Vincenzo, Ferramosca, Alessandra, Marra, Federica, Fiermonte, Giuseppe, Cappello, Anna Rita, De Leonardis, Francesco, Capobianco, Loredana, Dolce, Vincenza.

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 6052, p 6052 (2020)

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82fff18245cc5908b0edcb559c1ef4eTest
http://europepmc.org/articles/PMC7504413Test

3

A mutation in the mitochondrial aspartate/glutamate carrier leads to a more oxidizing intramitochondrial environment and an inflammatory myopathy in Dutch shepherd dogs

المؤلفون: Antonio M. Persico, James R. Mickelson, G. Diane Shelton, Ruggiero Gorgoglione, Robert K. Naviaux, Ling T. Guo, Peter J. Leegwater, Jane C. Naviaux, Francesco M. Lasorsa, Lin Wang, Elizabeth Guzik, Luigi Palmieri, Jon Monk, Vito Porcelli, Katie M. Minor, Kefeng Li

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: 0301 basic medicine, Research Report, Amino Acid Transport Systems, Amino Acid Transport Systems, Acidic, SLC25A12, Myopathy, Glutamic Acid, Mitochondrion, Polymyositis, mitochondrial transporter, Antiporters, Dermatomyositis, Proinflammatory cytokine, Canine, Inflammatory myopathy, 03 medical and health sciences, 0302 clinical medicine, Dogs, medicine, Glutamate aspartate transporter, Metabolomics, Animals, Humans, Dog Diseases, Mitochondrial transporter, Acidic, Aspartic Acid, Mitochondria, Mutation, Myositis, Oxidation-Reduction, biology, Chemistry, Muscle weakness, medicine.disease, Molecular biology, metabolomics, 030104 developmental biology, Neurology, biology.protein, Neurology (clinical), Inclusion body myositis, medicine.symptom, Canine, Metabolomics, Mitochondrial transporter, Myopathy, SLC25A12, Amino Acid Transport Systems, Acidic, Animals, Antiporters, Aspartic Acid, Dermatomyositis, Dog Diseases, Dogs, Glutamic Acid, Humans, Mitochondria, Mutation, Myositis, Oxidation-Reduction, Polymyositis, 030217 neurology & neurosurgery, myopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca677cee0db3101261af991bbf2debeTest
https://hdl.handle.net/11380/1251068Test

4

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

المؤلفون: Ferdinando Palmieri, Magnus Monné, Pasquale Scarcia

المصدر: Biomolecules
Biomolecules, Vol 10, Iss 655, p 655 (2020)

مصطلحات موضوعية: mitochondrial carrier, Models, Molecular, 0301 basic medicine, Multifactorial Inheritance, Mitochondrial DNA, membrane transport, Mitochondrial disease, lcsh:QR1-502, Review, medicine.disease_cause, SLC25, Biochemistry, lcsh:Microbiology, mitochondrial transporter, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Amino Acid Sequence, Molecular Biology, Genetics, disease, Mutation, ATP synthase, biology, Chemistry, Point mutation, medicine.disease, Mitochondrial carrier, Solute carrier family, Citric acid cycle, mitochondrial disease, error of metabolism, 030104 developmental biology, mitochondrial carrier disease, biology.protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac9f4ab4665a5bfdcfd09474d5e835cTest
https://doi.org/10.3390/biom10040655Test

5

Newly characterized mitochondrial BCAA transporter

المؤلفون: Alan Morris

المصدر: Nature

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::649858ed73da3beeeb43487b5943e1acTest
https://doi.org/10.1038/s41574-019-0262-yTest

6

Danio rerio ABC transporter genes abcb3 and abcb7 play a protecting role against metal contamination

المؤلفون: Lerebours, Adelaide, To, Van Vinh, Bourdineaud, Jean-Paul

المساهمون: University of Hull [United Kingdom], UMR 5805 Environnements et Paléoenvironnements Océaniques et Continentaux (EPOC), Observatoire aquitain des sciences de l'univers (OASU), Université Sciences et Technologies - Bordeaux 1-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Sciences et Technologies - Bordeaux 1-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Applied Toxicology
Journal of Applied Toxicology, Wiley, 2016, 36 (12), pp.1551-1557. ⟨10.1002/jat.3313⟩
Lerebours, A, To, V V & Bourdineaud, J-P 2016, ' Danio rerio ABC transporter genes abcb3 and abcb7 play a protecting role against metal contamination ', Journal of Applied Toxicology, vol. 36, no. 12, pp. 1551-1557 . https://doi.org/10.1002/jat.3313Test

مصطلحات موضوعية: ABC transporters, [SDV.BA.ZV]Life Sciences [q-bio]/Animal biology/Vertebrate Zoology, metals, [SDV.TOX.ECO]Life Sciences [q-bio]/Toxicology/Ecotoxicology, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, zebrafish, protection, Biology, mitochondrial transporter