Associated Papers
Metabolic-Associated Steatotic Liver Disease and FGF21 Dysregulation in Seipin-Deficient and BSCL2-Associated Celia's Encephalopathy Murine Models.
Cobelo-Gómez S et al.
International Journal of Molecular Sciences, 2025
Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.
Wang Y et al.
Frontiers in Genetics, 2025
A murine model of BSCL2-associated Celia's encephalopathy.
Cobelo-Gómez S et al.
Neurobiology of Disease, 2023
Role of Seipin in Human Diseases and Experimental Animal Models.
Li Y et al.
Biomolecules, 2022
A Novel, Heterozygous BSCL2 Variant in Association With Early-Onset Epileptic Encephalopathy.
Stanley NE et al.
Journal of Neuropathology and Experimental Neurology, 2022
The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report.
Yang Y et al.
Bmc Endocrine Disorders, 2022
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S et al.
Journal of Clinical Medicine, 2021
Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.
Pedicelli S et al.
Italian Journal of Pediatrics, 2020
Genetic variations associated with pharmacoresistant epilepsy (Review).
Cárdenas-Rodríguez N et al.
Molecular Medicine Reports, 2020
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Fernández-Marmiesse A et al.
Seizure, 2019
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y et al.
European Journal of Medical Genetics, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S et al.
Neurogenetics, 2019
Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration.
Poisson A et al.
Biological Psychiatry, 2019
A YOUNG ADULT WITH GENERALIZED LIPODYSTROPHY AND DIABETES MELLITUS (CASE REPORT).
Çelo E et al.
Georgian Medical News, 2018
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.
Araújo-Vilar D et al.
European Journal of Human Genetics : Ejhg, 2018
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Purizaca-Rosillo N et al.
American Journal of Medical Genetics. Part A, 2017
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.
Alaei MR et al.
Iranian Biomedical Journal, 2016
Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
Sánchez-Iglesias S et al.
Plos One, 2016
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
Ruiz-Riquelme A et al.
Neurobiology of Disease, 2015
Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.
Araujo-Vilar D et al.
Endocrine, 2015
Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K et al.
Bioscience Reports, 2014
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E et al.
Journal of Medical Genetics, 2013