Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. - Test2 - elhamkhani - TriplyDB

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

http://www.wikidata.org/entity/Q34313405

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ELOVL5 mutations cause spinocerebellar ataxia 38 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics Is Modulation of Oxidative Stress an Answer? The State of the Art of Redox Therapeutic Actions in Neurodegenerative Diseases CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Spastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Phosphatidic acid phospholipase A1 mediates ER-Golgi transit of a family of G protein-coupled receptors.Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse Spastin binds to lipid droplets and affects lipid metabolism.Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).Ectopic fat deposition contributes to age-associated pathology in Caenorhabditis elegans.Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15 Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.An overview of inborn errors of complex lipid biosynthesis and remodelling.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Expanding roles for lipid droplets.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Emerging roles for brain drug-metabolizing cytochrome P450 enzymes in neuropsychiatric conditions and responses to drugs.

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Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

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2012 nî lūn-bûn

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2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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American Journal of Human Genetics

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Alteration of fatty-acid-metab ...... hereditary spastic paraplegia.

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Abdulmajeed Al Drees

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Ali Benomar

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Andrés Caballero Oteyza

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Christelle M Durand

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Emilie Obre

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6

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Rebecca Schüle

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Giovanni Stevanin

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Mustafa A. Salih

Mohammed Al Balwi

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