Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
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ELOVL5 mutations cause spinocerebellar ataxia 38Neurological aspects of human glycosylation disordersSialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regenerationHuman genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)Role of Cytokine-Induced Glycosylation Changes in Regulating Cell Interactions and Cell Signaling in Inflammatory Diseases and CancerDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologySevere dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.Ganglioside regulation of AMPA receptor trafficking.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesLoss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseSialylation regulates brain structure and function.Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosisActivities of genes controlling sphingolipid metabolism in human fibroblasts treated with flavonoids.Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.Neuronal expression of GalNAc transferase is sufficient to prevent the age-related neurodegenerative phenotype of complex ganglioside-deficient mice.Ganglioside deficiency causes inflammation and neurodegeneration via the activation of complement system in the spinal cord.Sphingolipid lysosomal storage disorders.Human genetic disorders of sphingolipid biosynthesis.The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.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.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Gangliosides of the Vertebrate Nervous SystemHereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Lipid glycosylation: a primer for histochemists and cell biologists.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.B4GALNT1 dimer transfers GalNAc from UDP-GalNAc to GM3 and GD3 gangliosidesEarly growth and development impairments in patients with ganglioside GM3 synthase deficiency.Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.
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P2860
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 06 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Alteration of ganglioside bios ...... hereditary spastic paraplegia.
@en
Alteration of ganglioside bios ...... hereditary spastic paraplegia.
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type
label
Alteration of ganglioside bios ...... hereditary spastic paraplegia.
@en
Alteration of ganglioside bios ...... hereditary spastic paraplegia.
@nl
prefLabel
Alteration of ganglioside bios ...... hereditary spastic paraplegia.
@en
Alteration of ganglioside bios ...... hereditary spastic paraplegia.
@nl
P2093
P2860
P50
P1476
Alteration of ganglioside bios ...... hereditary spastic paraplegia.
@en
P2093
Amir Boukhris
Andreas Ferbert
Anne Noreau
Charles Marques Lourenço
Emeline Mundwiller
Fanny Mochel
Fiorella Speziani
Imen Rekik
Jean Pouget
P2860
P304
P356
10.1016/J.AJHG.2013.05.006
P407
P50
P577
2013-06-06T00:00:00Z