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Disease on EC 2.7.1.17 - xylulokinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abetalipoproteinemia
Expression of Kell blood group protein in nonerythroid tissues.
Expression profiles of mouse Kell, XK, and XPLAC mRNA.
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.
McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.
Neurodegeneration in the elderly - When the blood type matters: An overview of the McLeod syndrome with focus on hematological features.
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
Anencephaly
A review and case report of aprosencephaly and the XK aprosencephaly syndrome.
Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
XK aprosencephaly and anencephaly in sibs.
XK aprosencephaly may be a new mutation or a dominant genetic defect.
XK aprosencephaly.
Bradycardia
Effects of avertin versus xylazine-ketamine anesthesia on cardiac function in normal mice.
Cardiomyopathies
Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis.
Chorea
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
Phenotypic variability of a distinct deletion in McLeod syndrome.
The chorea of McLeod syndrome.
[Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis]
Cleft Lip
Letter to the editor. Liu Q, Yang M L, Li Z J, Bai X F, Wang XK, Lu L, Wang Y X. A simple and precise classification for cleft lip and palate: a five digit numerical recording system. Cleft Palate Craniofac J. 2007;44:465-8.
Cleft Palate
Letter to the editor. Liu Q, Yang M L, Li Z J, Bai X F, Wang XK, Lu L, Wang Y X. A simple and precise classification for cleft lip and palate: a five digit numerical recording system. Cleft Palate Craniofac J. 2007;44:465-8.
Communicable Diseases
Assessment of Farmer Knowledge of Large Ruminant Health and Production in Developing Village-Level Biosecurity in Northern Lao PDR.
Coronary Artery Disease
Association between the XKR6 rs7819412 SNP and serum lipid levels and the risk of coronary artery disease and ischemic stroke.
Cystic Fibrosis
Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation.
Disorders of Sex Development
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.
Genetic Diseases, Inborn
Brain F-18 FDG and F-18 FP-CIT PET/CT Findings of c.856_860delCTCTA Mutation McLeod Syndrome.
Granulomatous Disease, Chronic
Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.
Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.
Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.
Unusual muscle pathology in McLeod syndrome.
Hemoglobinuria
No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.
Hemoglobinuria, Paroxysmal
No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene.
Huntington Disease
Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.
Hydranencephaly
XK-aprosencephaly and related entities.
Ischemic Stroke
Association between the XKR6 rs7819412 SNP and serum lipid levels and the risk of coronary artery disease and ischemic stroke.
Metabolic Diseases
Structure and function of human xylulokinase, an enzyme with important roles in carbohydrate metabolism.
Movement Disorders
A novel XK gene mutation in a Taiwanese family with McLeod syndrome.
Muscular Atrophy
Phenotypic variability of a distinct deletion in McLeod syndrome.
Muscular Diseases
Expression of Kell blood group protein in nonerythroid tissues.
Kell and XK immunohistochemistry in McLeod myopathy.
McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.
Muscular Dystrophies
The Kell blood group system: Kell and XK membrane proteins.
Muscular Dystrophy, Duchenne
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.
Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.
Unusual muscle pathology in McLeod syndrome.
Neoplasms
XK-aprosencephaly and related entities.
Neural Tube Defects
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.
Neuroacanthocytosis
Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis.
Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis.
Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome.
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.
The ced-8 gene controls the timing of programmed cell deaths in C. elegans.
XK is a partner for VPS13A: A molecular link between Chorea-Acanthocytosis and McLeod syndrome.
[McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. report of two related cases]
Neurologic Manifestations
Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.
ornithine carbamoyltransferase deficiency
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.
Ornithine Carbamoyltransferase Deficiency Disease
Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.
Peripheral Nervous System Diseases
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
Polyneuropathies
A novel XK gene mutation in a Taiwanese family with McLeod syndrome.
Retinitis Pigmentosa
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.
Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.
Seizures
Phenotypic variability of a distinct deletion in McLeod syndrome.
Typhus, Epidemic Louse-Borne
Clinical features and laboratory diagnosis of XK or mite-borne typhus as observed in 102 cases in the Barrackpore area.
Epidemiological observations on XK or mite-borne typhus in Barrackpore, Bengal.
Epidemiology of XK Typhus in Jamshedpur.