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Disease on EC 2.3.1.296 - omega-hydroxyceramide transacylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Blindness
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.
Dermatitis, Atopic
Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis.
Dermatitis, Exfoliative
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Ichthyosiform Erythroderma, Congenital
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Ichthyosis
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
ABHD5 stimulates PNPLA1-mediated ?-O-acylceramide biosynthesis essential for a functional skin permeability barrier.
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy.
Elucidation of the Synthetic Mechanism of Acylceramide, an Essential Lipid for Skin Barrier Function.
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis.
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.
Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
PNPLA1 defects in patients with Autosomal Recessive Congenital Ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.
PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ?-O-acylceramide.
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs.
Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis.
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.
The role of PNPLA1 in ?-O-acylceramide synthesis and skin barrier function.
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study.
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
[Analysis of PNPLA1 gene mutation in a child with ichthyosis].
[Spontaneous models of human diseases in dogs: ichthyoses as an example].
Insulin Resistance
Genetic variance in the adiponutrin gene family and childhood obesity.
Leber Congenital Amaurosis
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.
Obesity
Genetic variance in the adiponutrin gene family and childhood obesity.
omega-hydroxyceramide transacylase deficiency
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
Uterine Cervical Neoplasms
Identification of human patatin-like phospholipase domain-containing protein 1 and a mutant in human cervical cancer HeLa cells.