Movement Disorders, ISSN 0885-3185, 11/2016, Volume 31, Issue 11, pp. 1752 - 1753
ISOFORM 3 | MUTATIONS | CEREBELLAR-ATAXIA | CA2+ HOMEOSTASIS | CLINICAL NEUROLOGY | Dystonia - genetics | Plasma Membrane Calcium-Transporting ATPases - genetics | Olivopontocerebellar Atrophies - genetics | Pedigree | Humans | Adult | Female | Genetic Diseases, X-Linked - genetics | Male | Child | Spinocerebellar Ataxias - genetics | Charities | Dystonia
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 04/2006, Volume 281, Issue 15, pp. 10273 - 10280
The vacuolar H + -ATPase (V-ATPase) along with ion channels and transporters maintains vacuolar pH. V-ATPase ATP hydrolysis is coupled with proton transport...
SUBUNIT-C | HOMEOSTASIS | NEURONAL CEROID-LIPOFUSCINOSES | MEMBRANE-VESICLES | BIOCHEMISTRY & MOLECULAR BIOLOGY | YEAST MODEL | BATTEN-DISEASE | H+-ATPASE | NA+/H+ EXCHANGER | MITOCHONDRIAL UNCOUPLING PROTEINS | TRANSPORT-SYSTEMS | Gene Expression Regulation, Fungal | Protein Structure, Tertiary | Protons | Mandelic Acids | Molecular Chaperones - chemistry | Subcellular Fractions - metabolism | Proton-Translocating ATPases - metabolism | Saccharomyces cerevisiae - metabolism | Cyclins - metabolism | Time Factors | Models, Biological | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Vacuoles - metabolism | Adenosine Triphosphatases - chemistry | Cyclins - physiology | Saccharomyces cerevisiae Proteins - physiology | Hydrogen-Ion Concentration | Saccharomyces cerevisiae Proteins - chemistry
SUBUNIT-C | HOMEOSTASIS | NEURONAL CEROID-LIPOFUSCINOSES | MEMBRANE-VESICLES | BIOCHEMISTRY & MOLECULAR BIOLOGY | YEAST MODEL | BATTEN-DISEASE | H+-ATPASE | NA+/H+ EXCHANGER | MITOCHONDRIAL UNCOUPLING PROTEINS | TRANSPORT-SYSTEMS | Gene Expression Regulation, Fungal | Protein Structure, Tertiary | Protons | Mandelic Acids | Molecular Chaperones - chemistry | Subcellular Fractions - metabolism | Proton-Translocating ATPases - metabolism | Saccharomyces cerevisiae - metabolism | Cyclins - metabolism | Time Factors | Models, Biological | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Vacuoles - metabolism | Adenosine Triphosphatases - chemistry | Cyclins - physiology | Saccharomyces cerevisiae Proteins - physiology | Hydrogen-Ion Concentration | Saccharomyces cerevisiae Proteins - chemistry
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2013, Volume 288, Issue 39, pp. 28126 - 28137
The study of the components of mitochondrial metabolism has potential benefits for health span and lifespan because the maintenance of efficient mitochondrial...
PROTEIN PHOSPHATASE | GENE | METABOLISM | PHOSPHORYLATION | RESPIRATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | KINASE | IDENTIFICATION | SACCHAROMYCES-CEREVISIAE | EXPRESSION | Gene Expression Regulation, Fungal | Mitochondria - enzymology | Protein Phosphatase 2 - physiology | Phosphorylation | Oxidation-Reduction | Oxidative Stress | Signal Transduction | Antioxidants - metabolism | Isoelectric Focusing | Ubiquinone - metabolism | Mixed Function Oxygenases - metabolism | Plasmids - metabolism | Ubiquinone - biosynthesis | Alleles | Protein Phosphatase 2 - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Saccharomyces cerevisiae - enzymology | Saccharomyces cerevisiae Proteins - physiology | Enzyme Activation | Coenzyme Q | Yeast | Bioenergetics | Phosphatase | Respiratory Chain | Mitochondrial Metabolism
PROTEIN PHOSPHATASE | GENE | METABOLISM | PHOSPHORYLATION | RESPIRATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | KINASE | IDENTIFICATION | SACCHAROMYCES-CEREVISIAE | EXPRESSION | Gene Expression Regulation, Fungal | Mitochondria - enzymology | Protein Phosphatase 2 - physiology | Phosphorylation | Oxidation-Reduction | Oxidative Stress | Signal Transduction | Antioxidants - metabolism | Isoelectric Focusing | Ubiquinone - metabolism | Mixed Function Oxygenases - metabolism | Plasmids - metabolism | Ubiquinone - biosynthesis | Alleles | Protein Phosphatase 2 - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Saccharomyces cerevisiae - enzymology | Saccharomyces cerevisiae Proteins - physiology | Enzyme Activation | Coenzyme Q | Yeast | Bioenergetics | Phosphatase | Respiratory Chain | Mitochondrial Metabolism
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 10/2019, Volume 10, Issue 1, pp. 1 - 13
Alterations of Ca2+ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca2+ efflux from the endoplasmic reticulum into the...
PROTEIN | DOMINANT SENSORY ATAXIA | GENE | UBIQUITIN LIGASE | MULTIDISCIPLINARY SCIENCES | MUTATION | DISEASE | RECEPTOR | DEGRADATION | NEURODEGENERATION | ERLIN2 | Ubiquitin | Cerebellum | Genes | Homeostasis | Degradation | Paraplegia | Receptors | Fibroblasts | Ataxia | Paralysis | Spastic paraplegia | Ubiquitin-protein ligase | Calcium homeostasis | Inositol 1,4,5-trisphosphate receptors | Efflux | Neurodegenerative diseases | Therapeutic applications | Cerebellar ataxia | Paraplegics | Zebrafish | Hereditary spastic paraplegia | Calcium efflux | Mutation | Endoplasmic reticulum | Calcium (reticular) | Cytoplasm | Calcium ions
PROTEIN | DOMINANT SENSORY ATAXIA | GENE | UBIQUITIN LIGASE | MULTIDISCIPLINARY SCIENCES | MUTATION | DISEASE | RECEPTOR | DEGRADATION | NEURODEGENERATION | ERLIN2 | Ubiquitin | Cerebellum | Genes | Homeostasis | Degradation | Paraplegia | Receptors | Fibroblasts | Ataxia | Paralysis | Spastic paraplegia | Ubiquitin-protein ligase | Calcium homeostasis | Inositol 1,4,5-trisphosphate receptors | Efflux | Neurodegenerative diseases | Therapeutic applications | Cerebellar ataxia | Paraplegics | Zebrafish | Hereditary spastic paraplegia | Calcium efflux | Mutation | Endoplasmic reticulum | Calcium (reticular) | Cytoplasm | Calcium ions
Journal Article
Movement Disorders, ISSN 0885-3185, 11/2016, Volume 31, Issue 11, pp. 1752 - 1753
Journal Article
Zephyrus, ISSN 0514-7336, 12/2018, Volume 82, pp. 93 - 117
En el presente artículo se pretende caracterizar de forma más precisa el modelo de implantación, en el espacio geográfico del denominado Bronce Valenciano, de...
estructura política | territorio | Edad del Bronce | Este peninsular | desarrollo social
estructura política | territorio | Edad del Bronce | Este peninsular | desarrollo social
Journal Article
Molecular BioSystems, ISSN 1742-206X, 2011, Volume 7, Issue 4, p. 1347
Journal Article
Human molecular genetics, ISSN 0964-6906, 09/2017, Volume 26, Issue 18, pp. 3545 - 3552
Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2...
YEAST | SEIZURES | ELONGATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | MOUSE | GENETICS & HEREDITY | EXPRESSION | Cardiomyopathy, Dilated - genetics | Failure to Thrive - genetics | Genomics | Humans | Developmental Disabilities - genetics | Cardiomyopathy, Dilated - metabolism | Mutation, Missense - genetics | Zebrafish - genetics | Saccharomyces cerevisiae - metabolism | Homozygote | Animals | Zebrafish - metabolism | Epilepsy - genetics | Models, Animal | Mutation | Peptide Elongation Factor 1 - genetics | Peptide Elongation Factor 1 - metabolism | Protein Isoforms - genetics
YEAST | SEIZURES | ELONGATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | MOUSE | GENETICS & HEREDITY | EXPRESSION | Cardiomyopathy, Dilated - genetics | Failure to Thrive - genetics | Genomics | Humans | Developmental Disabilities - genetics | Cardiomyopathy, Dilated - metabolism | Mutation, Missense - genetics | Zebrafish - genetics | Saccharomyces cerevisiae - metabolism | Homozygote | Animals | Zebrafish - metabolism | Epilepsy - genetics | Models, Animal | Mutation | Peptide Elongation Factor 1 - genetics | Peptide Elongation Factor 1 - metabolism | Protein Isoforms - genetics
Journal Article
Zephyrvs, ISSN 0514-7336, 12/2018, Volume 82, p. 93
Journal Article
Zephyrus, ISSN 0514-7336, 07/2018, Volume 82, pp. 93 - 117
En el presente artículo se pretende caracterizar de forma más precisa el modelo de implantación, en el espacio geográfico del denominado Bronce Valenciano, de...
Archaeology | Politics | Social change | Bronze Age
Archaeology | Politics | Social change | Bronze Age
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 3/2010, Volume 19, Issue 5, pp. 931 - 942
Juvenile Batten disease is an autosomal recessive pediatric neurodegenerative disorder caused by mutations in the CLN3 gene. The CLN3 protein primarily resides...
SUBUNIT BIOGENESIS | MEMBRANE-VESICLES | AMINO-ACIDS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | YEAST MODEL | GENE-EXPRESSION | GLOBAL ANALYSIS | CLN3 PROTEIN | SHWACHMAN-DIAMOND-SYNDROME | VACUOLAR H+-ATPASE | SCHIZOSACCHAROMYCES-POMBE | NIH 3T3 Cells | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Cyclins - genetics | Molecular Chaperones - genetics | Saccharomyces cerevisiae Proteins - genetics | Membrane Glycoproteins - genetics | Proteins - genetics | Phenotype | Animals | Proteins - metabolism | Transfection | Cyclins - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Mice
SUBUNIT BIOGENESIS | MEMBRANE-VESICLES | AMINO-ACIDS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | YEAST MODEL | GENE-EXPRESSION | GLOBAL ANALYSIS | CLN3 PROTEIN | SHWACHMAN-DIAMOND-SYNDROME | VACUOLAR H+-ATPASE | SCHIZOSACCHAROMYCES-POMBE | NIH 3T3 Cells | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Cyclins - genetics | Molecular Chaperones - genetics | Saccharomyces cerevisiae Proteins - genetics | Membrane Glycoproteins - genetics | Proteins - genetics | Phenotype | Animals | Proteins - metabolism | Transfection | Cyclins - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Mice
Journal Article
Arqueología de la Arquitectura, ISSN 1695-2731, 08/2019, Issue 16, p. 83
A pesar de que la cultura de El Argar es una de las entidades arqueológicas mejor conocidas del ámbito peninsular, no son muchos los trabajos efectuados sobre...
Journal Article
Arqueología de la Arquitectura, ISSN 1695-2731, 08/2019, Issue 16, pp. e083 - e083
Although El Argar culture is one of the best-known archaeological entities in the Iberian Peninsula, there are not many works published on the architectural...
el argar | técnicas constructivas | edad del bronce | edificación | materiales | fortificaciones
el argar | técnicas constructivas | edad del bronce | edificación | materiales | fortificaciones
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1249 - 1255
Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to...
AMPA | ACID | DISEASE | GENETICS & HEREDITY | TRAFFICKING | SPECTRUM | RECEPTORS | STXBP1 MUTATIONS | Hyperkinesis - genetics | Synaptic Transmission - physiology | Membrane Proteins - genetics | Humans | Brain Diseases - genetics | Electrophysiology | Infant | Male | alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid - metabolism | Mutation - genetics | Nerve Tissue Proteins - genetics | Pedigree | Epilepsy - genetics | Female | Genetic aspects | Gene mutations | Health aspects | Encephalopathy | Report
AMPA | ACID | DISEASE | GENETICS & HEREDITY | TRAFFICKING | SPECTRUM | RECEPTORS | STXBP1 MUTATIONS | Hyperkinesis - genetics | Synaptic Transmission - physiology | Membrane Proteins - genetics | Humans | Brain Diseases - genetics | Electrophysiology | Infant | Male | alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid - metabolism | Mutation - genetics | Nerve Tissue Proteins - genetics | Pedigree | Epilepsy - genetics | Female | Genetic aspects | Gene mutations | Health aspects | Encephalopathy | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 666 - 678
Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are...
epilepsy | arthrogryposis | calcium channel | CACNA1E, ion channel | ILAE COMMISSION | LANDSCAPE | GENETICS & HEREDITY | CALCIUM-CHANNEL DYSFUNCTION | CLASSIFICATION | DISORDERS | R-TYPE | POSITION PAPER | MUTATIONS | ARRHYTHMIA | MICE LACKING | Complications and side effects | Genetic aspects | Research | Epilepsy | Encephalopathy | Risk factors | mice lacking | Genetics & Heredity | Klinisk medicin | r-type | classification | Clinical Medicine | disorders | mutations | ilae | ca2+ channels | commission | position paper | calcium-channel dysfunction | molecular pathology
epilepsy | arthrogryposis | calcium channel | CACNA1E, ion channel | ILAE COMMISSION | LANDSCAPE | GENETICS & HEREDITY | CALCIUM-CHANNEL DYSFUNCTION | CLASSIFICATION | DISORDERS | R-TYPE | POSITION PAPER | MUTATIONS | ARRHYTHMIA | MICE LACKING | Complications and side effects | Genetic aspects | Research | Epilepsy | Encephalopathy | Risk factors | mice lacking | Genetics & Heredity | Klinisk medicin | r-type | classification | Clinical Medicine | disorders | mutations | ilae | ca2+ channels | commission | position paper | calcium-channel dysfunction | molecular pathology
Journal Article
BBA - Biomembranes, ISSN 0005-2736, 06/2009, Volume 1788, Issue 6, pp. 1238 - 1248
Coenzyme Q is an isoprenylated benzoquinone lipid that functions in respiratory electron transport and as a lipid antioxidant. Dietary supplementation with Q...
Coenzyme Q | Endocytosis | Ubiquinone | Endomembrane | Mitochondrial disease | Q uptake | Saccharomyces cerevisiae - physiology | Vacuoles - genetics | Saccharomyces cerevisiae - genetics | Vacuoles - physiology | Cell Membrane - genetics | Ubiquinone - genetics | Golgi Apparatus - physiology | Cell Membrane - physiology | DNA Primers | Endocytosis - physiology | Mitochondria - genetics | Polymerase Chain Reaction | Ubiquinone - physiology | Mutation | Mitochondria - physiology
Coenzyme Q | Endocytosis | Ubiquinone | Endomembrane | Mitochondrial disease | Q uptake | Saccharomyces cerevisiae - physiology | Vacuoles - genetics | Saccharomyces cerevisiae - genetics | Vacuoles - physiology | Cell Membrane - genetics | Ubiquinone - genetics | Golgi Apparatus - physiology | Cell Membrane - physiology | DNA Primers | Endocytosis - physiology | Mitochondria - genetics | Polymerase Chain Reaction | Ubiquinone - physiology | Mutation | Mitochondria - physiology
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, p. 1249
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 562 - 562
Journal Article
Dermatologia Revista Mexicana, ISSN 0185-4038, 03/2010, Volume 54, Issue 2, pp. 92 - 97
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 04/2006, Volume 281, Issue 15, pp. 10273 - 10280
The vacuolar H super(+)-ATPase (V-ATPase) along with ion channels and transporters maintains vacuolar pH. V-ATPase ATP hydrolysis is coupled with proton...
Journal Article
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