Väinö Lithovius
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View article: Ghrelin and relamorelin alleviate hypoglycaemia in humanised mice with congenital hyperinsulinism
Ghrelin and relamorelin alleviate hypoglycaemia in humanised mice with congenital hyperinsulinism Open
K ATP -channel related hyperinsulinism (K ATP HI) is a genetic disorder of the pancreatic beta cells, manifesting as life-threatening hypoglycaemia in neonates due to dysregulated insulin secretion. Management of the severe diffuse form of…
View article: Endocrine-enriched stem cell-derived islets improve long-term safety <i>in vivo</i>
Endocrine-enriched stem cell-derived islets improve long-term safety <i>in vivo</i> Open
Fully differentiated stem cell-derived islets (SC-islets) are proven to normalise blood glucose in type 1 diabetic patients. However, the presence of off-target cell types and the immature SC-islet function upon transplantation remain unre…
View article: Stem-cell-derived beta cells mature metabolically upon murine engraftment
Stem-cell-derived beta cells mature metabolically upon murine engraftment Open
View article: <i>IER3IP1</i> Mutations Cause Neonatal Diabetes Due to Impaired Proinsulin Trafficking
<i>IER3IP1</i> Mutations Cause Neonatal Diabetes Due to Impaired Proinsulin Trafficking Open
Immediate early response 3 interacting protein 1 (IER3IP1) is an endoplasmic reticulum (ER) resident protein, highly expressed in pancreatic cells and the developing brain cortex. Homozygous mutations in IER3IP1 have been found in individu…
View article: <b>IER3IP1 mutations cause neonatal diabetes due to impaired proinsulin trafficking</b>
<b>IER3IP1 mutations cause neonatal diabetes due to impaired proinsulin trafficking</b> Open
AbstractImmediate early response 3 interacting-protein 1 (IER3IP1) is an endoplasmic reticulum resident protein, highly expressed in pancreatic cells and the developing brain cortex. Homozygous mutations in IER3IP1 have been …
View article: <b>IER3IP1 mutations cause neonatal diabetes due to impaired proinsulin trafficking</b>
<b>IER3IP1 mutations cause neonatal diabetes due to impaired proinsulin trafficking</b> Open
AbstractImmediate early response 3 interacting-protein 1 (IER3IP1) is an endoplasmic reticulum resident protein, highly expressed in pancreatic cells and the developing brain cortex. Homozygous mutations in IER3IP1 have been …
View article: Non-invasive quantification of stem cell-derived islet graft size and composition
Non-invasive quantification of stem cell-derived islet graft size and composition Open
Aims/hypothesis Stem cell-derived islets (SC-islets) are being used as cell replacement therapy for insulin-dependent diabetes. Non-invasive long-term monitoring methods for SC-islet grafts, which are needed to detect misguided differentia…
View article: RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function
RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function Open
View article: Quantifying stem cell derived islet graft volume and composition with [<sup>18</sup>F]F-DBCO-exendin and [<sup>18</sup>F]FDOPA positron emission tomography
Quantifying stem cell derived islet graft volume and composition with [<sup>18</sup>F]F-DBCO-exendin and [<sup>18</sup>F]FDOPA positron emission tomography Open
Stem cell derived islets (SC-islets) are being developed as a novel source of beta cells that would enable large scale cell replacement therapy for insulin dependent diabetes. Therapeutic use of SC-islets carries an inherent risk of unwant…
View article: <i>RFX6</i>haploinsufficiency predisposes to diabetes through impaired beta cell functionality
<i>RFX6</i>haploinsufficiency predisposes to diabetes through impaired beta cell functionality Open
Regulatory factor X 6 (RFX6) is indispensable for pancreatic endocrine development and differentiation. The RFX6 protein-truncating variant p.His293LeufsTer7 is significantly enriched in the Finnish population with almost 1:250 individuals…
View article: Aberrant metabolite trafficking and fuel sensitivity in human pluripotent stem cell-derived islets
Aberrant metabolite trafficking and fuel sensitivity in human pluripotent stem cell-derived islets Open
Pancreatic islets regulate blood glucose homeostasis through the controlled release of insulin; however, current metabolic models of glucose-sensitive insulin secretion are incomplete. A comprehensive understanding of islet metabolism is i…
View article: The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α
The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α Open
Type 1 diabetes (T1D) is an autoimmune disease that results in the destruction of insulin producing pancreatic β-cells. One of the genes associated with T1D is TYK2 , which encodes a Janus kinase with critical roles in type-Ι interferon (I…
View article: Differentiating functional human islet-like aggregates from pluripotent stem cells
Differentiating functional human islet-like aggregates from pluripotent stem cells Open
View article: Functional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells
Functional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells Open
View article: The type 1 diabetes gene <i>TYK2</i> regulates β-cell development and its responses to interferon-α
The type 1 diabetes gene <i>TYK2</i> regulates β-cell development and its responses to interferon-α Open
Type 1 diabetes (T1D) is an autoimmune disease that results in the destruction of insulin producing pancreatic β-cells. One of the genes associated with T1D is TYK2, which encodes a Janus kinase with critical roles in type-Ι interferon (IF…
View article: Stem Cell Based Models in Congenital Hyperinsulinism – Perspective on Practicalities and Possibilities
Stem Cell Based Models in Congenital Hyperinsulinism – Perspective on Practicalities and Possibilities Open
Congenital hyperinsulinism (CHI) is a severe inherited neonatal disorder characterized by inappropriate insulin secretion caused by genetic defects of the pancreatic beta cells. Several open questions remain in CHI research, such as the op…
View article: Functional, metabolic and transcriptional maturation of stem cell derived beta cells
Functional, metabolic and transcriptional maturation of stem cell derived beta cells Open
Transplantation of pancreatic islet cells derived from human pluripotent stem cells is a promising treatment for diabetes. Despite progress in stem cell-derived islet (SC-islet) generation, detailed characterization of their functional pro…
View article: Loss of MANF Causes Childhood Onset Syndromic Diabetes due to Increased Endoplasmic Reticulum Stress
Loss of MANF Causes Childhood Onset Syndromic Diabetes due to Increased Endoplasmic Reticulum Stress Open
MANF is an endoplasmic reticulum resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and function of mouse beta cells, its precise role in human beta cell developme…
View article: Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress Open
Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)–resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and function of mous…
View article: Loss of MANF Causes Childhood Onset Syndromic Diabetes due to Increased Endoplasmic Reticulum Stress
Loss of MANF Causes Childhood Onset Syndromic Diabetes due to Increased Endoplasmic Reticulum Stress Open
MANF is an endoplasmic reticulum resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and function of mouse beta cells, its precise role in human beta cell developme…
View article: SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism
SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism Open
View article: YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress Open
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in β cells. We ident…
View article: Epidemiology of two human protoparvoviruses, bufavirus and tusavirus
Epidemiology of two human protoparvoviruses, bufavirus and tusavirus Open
Two human parvoviruses were recently discovered by metagenomics in Africa, bufavirus (BuV) in 2012 and tusavirus (TuV) in 2014. These viruses have been studied exclusively by PCR in stool and detected only in patients with diarrhoea, altho…