Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
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Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamicsMisregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in YeastDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesThe hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipaseSpastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.Phosphatidic acid phospholipase A1 mediates ER-Golgi transit of a family of G protein-coupled receptors.Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.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.ADP-ribosylation: activation, recognition, and removalNomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.Protein purification and cloning of diacylglycerol lipase from rat brain.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.Enzymatic characterization of recombinant rat DDHD2: a soluble diacylglycerol lipase.
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P2860
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 13 March 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
Mutations in phospholipase DDH ...... ry spastic paraplegia (SPG54).
@en
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia
@nl
type
label
Mutations in phospholipase DDH ...... ry spastic paraplegia (SPG54).
@en
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia
@nl
prefLabel
Mutations in phospholipase DDH ...... ry spastic paraplegia (SPG54).
@en
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia
@nl
P2093
P2860
P50
P356
P1476
Mutations in phospholipase DDH ...... ry spastic paraplegia (SPG54).
@en
P2093
Andrés Caballero Oteyza
Cornelia Kornblum
Fiorella Speziani
Ioanna Konidari
Jochen Walter
Michael Gonzalez
Sheela Nampoothiri
William Hulme
P2860
P2888
P304
P356
10.1038/EJHG.2013.29
P577
2013-03-13T00:00:00Z
P5875
P6179
1030960896