- Home
- Publications
- Publication Search
- Publication Details
Title
Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding
Authors
Keywords
-
Journal
Journal of Clinical Medicine
Volume 10, Issue 7, Pages 1435
Publisher
MDPI AG
Online
2021-04-01
DOI
10.3390/jcm10071435
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane
- (2021) Xavier Prasanna et al. PLOS BIOLOGY
- The fat brain
- (2020) Jorge Montesinos et al. CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE
- Lipid-droplet-accumulating microglia represent a dysfunctional and proinflammatory state in the aging brain
- (2020) Julia Marschallinger et al. NATURE NEUROSCIENCE
- Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
- (2020) Silvia Ferranti et al. NEUROLOGICAL SCIENCES
- New friends for seipin — Implications of seipin partner proteins in the life cycle of lipid droplets
- (2020) Maria Bohnert SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Lipid Droplets in Neurodegenerative Disorders
- (2020) Brandon C. Farmer et al. Frontiers in Neuroscience
- Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
- (2020) Sofía Sánchez-Iglesias et al. NEUROLOGICAL SCIENCES
- Shifts and drifts in prion science
- (2020) Adriano Aguzzi et al. SCIENCE
- Seipin regulates the formation of nuclear lipid droplets from a distance
- (2020) Ximing Du et al. JOURNAL OF CELL BIOLOGY
- Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner
- (2020) Kamil Sołtysik et al. JOURNAL OF CELL BIOLOGY
- Promethin Is a Conserved Seipin Partner Protein
- (2019) Inês G. Castro et al. Cells
- Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
- (2019) Sofía Sánchez-Iglesias et al. NEUROGENETICS
- Neuron-Astrocyte Metabolic Coupling Protects against Activity-Induced Fatty Acid Toxicity
- (2019) Maria S. Ioannou et al. CELL
- Comorbidities and Survival in Patients with Lipodystrophy: An International Chart Review Study
- (2019) Baris Akinci et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy
- (2019) Yi Zhang et al. MEDICINE
- A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
- (2019) Ana Fernández-Marmiesse et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- LDAF1 and Seipin Form a Lipid Droplet Assembly Complex
- (2019) Jeeyun Chung et al. DEVELOPMENTAL CELL
- The Inner Nuclear Membrane Is a Metabolically Active Territory that Generates Nuclear Lipid Droplets
- (2018) Anete Romanauska et al. CELL
- Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy
- (2018) David Araújo-Vilar et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy
- (2018) Josivan Gomes Lima et al. PLoS One
- Diagnosis and treatment of lipodystrophy: a step-by-step approach
- (2018) D. Araújo-Vilar et al. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
- Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration
- (2018) Alice Poisson et al. BIOLOGICAL PSYCHIATRY
- The peroxisome: an update on mysteries 2.0
- (2018) Markus Islinger et al. HISTOCHEMISTRY AND CELL BIOLOGY
- Seipin and the membrane-shaping protein Pex30 cooperate in organelle budding from the endoplasmic reticulum
- (2018) Sihui Wang et al. Nature Communications
- Human SEIPIN Binds Anionic Phospholipids
- (2018) Renhong Yan et al. DEVELOPMENTAL CELL
- Cryo–electron microscopy structure of the lipid droplet–formation protein seipin
- (2018) Xuewu Sui et al. JOURNAL OF CELL BIOLOGY
- Dynamics and functions of lipid droplets
- (2018) James A. Olzmann et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies
- (2018) Sofía Sánchez-Iglesias et al. NEUROSCIENCE
- Laminopathies
- (2018) Giovanna Lattanzi et al. Nucleus
- Identification of seipin-linked factors that act as determinants of a lipid droplet subpopulation
- (2017) Michal Eisenberg-Bord et al. JOURNAL OF CELL BIOLOGY
- Control of gene expression through the nonsense-mediated RNA decay pathway
- (2017) Andrew Nickless et al. Cell and Bioscience
- Lipid Processing in the Brain: A Key Regulator of Systemic Metabolism
- (2017) Kimberley D. Bruce et al. Frontiers in Endocrinology
- Peroxisomes in brain development and function
- (2016) Johannes Berger et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Seipin regulates ER–lipid droplet contacts and cargo delivery
- (2016) Veijo T Salo et al. EMBO JOURNAL
- A family of membrane-shaping proteins at ER subdomains regulates pre-peroxisomal vesicle biogenesis
- (2016) Amit S. Joshi et al. JOURNAL OF CELL BIOLOGY
- The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline
- (2016) Rebecca J. Brown et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Activation of PPAR Ameliorates Spatial Cognitive Deficits through Restoring Expression of AMPA Receptors in Seipin Knock-Out Mice
- (2016) L. Zhou et al. JOURNAL OF NEUROSCIENCE
- Fatty acids and their therapeutic potential in neurological disorders
- (2016) Enie Lei et al. NEUROCHEMISTRY INTERNATIONAL
- Mechanism and regulation of the nonsense-mediated decay pathway
- (2016) Nele Hug et al. NUCLEIC ACIDS RESEARCH
- Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review
- (2016) Roberta Opri et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase
- (2016) Martin Pagac et al. Cell Reports
- Seipin is required for converting nascent to mature lipid droplets
- (2016) Huajin Wang et al. eLife
- The Effects of Leptin Replacement on Neural Plasticity
- (2016) Gilberto J. Paz-Filho NEURAL PLASTICITY
- Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
- (2016) Cheng-Tsung Hsiao et al. PLoS One
- Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis
- (2016) Sofía Sánchez-Iglesias et al. PLoS One
- The expression of SEIPIN in the mouse central nervous system
- (2015) Xiaoyun Liu et al. Brain Structure & Function
- Antioxidant Role for Lipid Droplets in a Stem Cell Niche of Drosophila
- (2015) Andrew P. Bailey et al. CELL
- Aberrant Lipid Metabolism in the Forebrain Niche Suppresses Adult Neural Stem Cell Proliferation in an Animal Model of Alzheimer’s Disease
- (2015) Laura K. Hamilton et al. Cell Stem Cell
- Seipin knockout in mice impairs stem cell proliferation and progenitor cell differentiation in the adult hippocampal dentate gyrus via reduced levels of PPAR
- (2015) G. Li et al. Disease Models & Mechanisms
- Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis
- (2015) Chihiro Ebihara et al. HUMAN MOLECULAR GENETICS
- Preferential PPAR-α activation reduces neuroinflammation, and blocks neurodegenerationin vivo
- (2015) Mohammad A. Esmaeili et al. HUMAN MOLECULAR GENETICS
- Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology
- (2015) Bethany R. Cartwright et al. MOLECULAR BIOLOGY OF THE CELL
- Congenital generalized lipodystrophies—new insights into metabolic dysfunction
- (2015) Nivedita Patni et al. Nature Reviews Endocrinology
- Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease
- (2015) Alejandro Ruiz-Riquelme et al. NEUROBIOLOGY OF DISEASE
- Cholesterol metabolism and homeostasis in the brain
- (2015) Juan Zhang et al. Protein & Cell
- Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis
- (2015) Md. Mesbah Uddin Talukder et al. Molecular Metabolism
- Seipin Promotes Adipose Tissue Fat Storage through the ER Ca2+-ATPase SERCA
- (2014) Junfeng Bi et al. Cell Metabolism
- Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus
- (2013) Wulin Yang et al. BIOCHEMICAL JOURNAL
- BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling
- (2013) Wulin Yang et al. HUMAN MOLECULAR GENETICS
- A new seipin-associated neurodegenerative syndrome
- (2013) Encarna Guillén-Navarro et al. JOURNAL OF MEDICAL GENETICS
- Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission
- (2013) Shunhui Wei et al. JOURNAL OF NEUROCHEMISTRY
- Plasticity of Mouse Brain Docosahexaenoic Acid: Modulation by Diet and Age
- (2013) Toru Moriguchi et al. LIPIDS
- Greasing the synaptic vesicle cycle by membrane lipids
- (2013) Dmytro Puchkov et al. TRENDS IN CELL BIOLOGY
- Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice
- (2012) Magali Dumont et al. HUMAN MOLECULAR GENETICS
- Functional Magnetic Resonance Imaging Analysis of Food-Related Brain Activity in Patients with Lipodystrophy Undergoing Leptin Replacement Therapy
- (2012) Daisuke Aotani et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Seipin regulates excitatory synaptic transmission in cortical neurons
- (2012) Shunhui Wei et al. JOURNAL OF NEUROCHEMISTRY
- Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2
- (2012) B.-O. Choi et al. NEUROGENETICS
- Neuroanatomical Characterisation of the Expression of the Lipodystrophy and Motor-Neuropathy Gene Bscl2 in Adult Mouse Brain
- (2012) Alastair S. Garfield et al. PLoS One
- Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation
- (2011) L. S. Havel et al. HUMAN MOLECULAR GENETICS
- Pharmacologic activation of mitochondrial biogenesis exerts widespread beneficial effects in a transgenic mouse model of Huntington's disease
- (2011) Ashu Johri et al. HUMAN MOLECULAR GENETICS
- Seipin Is a Discrete Homooligomer
- (2010) Derk Binns et al. BIOCHEMISTRY
- PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress
- (2010) C. C. Muller et al. Disease Models & Mechanisms
- A Taiwanese Boy With Congenital Generalized Lipodystrophy Caused by Homozygous Ile262fs Mutation in the BSCL2 Gene
- (2010) Hsiu-Hui Huang et al. KAOHSIUNG JOURNAL OF MEDICAL SCIENCES
- Lipid droplets in inflammation and cancer
- (2010) Patricia T. Bozza et al. PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS
- The Human Lipodystrophy Gene Product Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Plays a Key Role in Adipocyte Differentiation
- (2009) Weiqin Chen et al. ENDOCRINOLOGY
- Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene
- (2009) Y-R Wu et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Seipinopathy: a novel endoplasmic reticulum stress-associated disease
- (2008) Daisuke Ito et al. BRAIN
- Dietary omega 3 fatty acids and the developing brain
- (2008) Sheila M. Innis BRAIN RESEARCH
- The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation
- (2008) V. A. Payne et al. DIABETES
- Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
- (2008) Weihua Fei et al. JOURNAL OF CELL BIOLOGY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now