Gunaseelan Narayanan
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View article: A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes
A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes Open
Adipose tissue dysfunction in obesity is a major global public health risk, contributing to insulin resistance and chronic diseases such as diabetes and cardiovascular disorders. Here, we identify a dominant c.37A>G p.(Arg13Gly) variant in…
View article: Human induced pluripotent stem cell derived nanovesicles for cardiomyocyte protection and proliferation
Human induced pluripotent stem cell derived nanovesicles for cardiomyocyte protection and proliferation Open
View article: Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis
Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis Open
Summary Impaired proteostasis can induce protein aggregation which is toxic to neuronal cells, contributing to neurodegeneration and other signs of aging. In this study, we delineate an early-onset progressive neuropathy evoking Giant Axon…
View article: IVNS1ABP Deficiency Disrupts Actin Filament Organization and Leads to Cellular Senescence in a Newly Identified Progeroid Neuropathy Syndrome
IVNS1ABP Deficiency Disrupts Actin Filament Organization and Leads to Cellular Senescence in a Newly Identified Progeroid Neuropathy Syndrome Open
Summary A homozygous variant in IVNS1ABP was identified in three siblings, displaying progeroid features with severe neuropathy. By generating isogenic induced pluripotent stem cells (iPSCs) from the patients’ fibroblasts and differentiati…
View article: Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy
Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy Open
Spinal muscular atrophy (SMA) is typically characterized as a motor neuron disease, but extraneuronal phenotypes are present in almost every organ in severely affected patients and animal models. Extraneuronal phenotypes were previously un…
View article: Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy
Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy Open
Background Polypoidal choroidal vasculopathy (PCV), a subtype of age-related macular degeneration (AMD), is a global leading cause of vision loss in older populations. Distinct from typical AMD, PCV is characterized by polyp-like dilatatio…
View article: Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy
Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy Open
Background Polypoidal choroidal vasculopathy (PCV), a subtype of age-related macular degeneration (AMD), is characterized by polyp-like dilatation of blood vessels and turbulent blood flow in the choroid of the eye. Gold standard anti-vasc…
View article: Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Open
View article: Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an <i>RFX6</i> mutation
Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an <i>RFX6</i> mutation Open
Mitchell-riley syndrome (MRS) is caused by recessive mutations in the Regulatory Factor X, 6 (RFX6) gene and is characterised by pancreatic hypoplasia and neonatal diabetes. To determine why MRS patients specifically lack pancreatic endocr…
View article: Generation of sibling-matched induced pluripotent stem cell lines from spinal and bulbar muscular atrophy patients
Generation of sibling-matched induced pluripotent stem cell lines from spinal and bulbar muscular atrophy patients Open
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of CAG repeats in the Androgen Receptor gene (AR). We report the generation of induced pluripotent stem cell (iPSC) lines from two SBMA patien…
View article: Enumeration of Neural Stem Cells Using Clonal Assays
Enumeration of Neural Stem Cells Using Clonal Assays Open
Neural stem cells (NSCs) have the ability to self-renew and generate the three major neural lineages - astrocytes, neurons and oligodendrocytes. NSCs and neural progenitors (NPs) are commonly cultured in vitro as neurospheres. This protoco…
View article: Purification, Visualization, and Molecular Signature of Neural Stem Cells
Purification, Visualization, and Molecular Signature of Neural Stem Cells Open
Neural stem cells (NSCs) are isolated from primary brain tissue and propagated as a heterogeneous mix of cells, including neural progenitors. To date, NSCs have not been purified in vitro to allow study of their biology and utility in rege…