Diego Balboa
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View article: Latent plasticity of the human pancreas across development, health, and disease
Latent plasticity of the human pancreas across development, health, and disease Open
The pancreas plays a central role in major human diseases, yet our understanding of its cellular diversity and plasticity remains incomplete. Here, we present a single-cell multiomics atlas of the human pancreas, profiling over four millio…
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: Trophoblast stem cell derivation from naive and primed hPSC enables ELF5 functional analysis
Trophoblast stem cell derivation from naive and primed hPSC enables ELF5 functional analysis Open
Human pluripotent stem cells (hPSCs) are valuable tools for studying placental biology, yet their differentiation into bona fide trophoblast stem cells (TSCs) remains challenging. In this study, we established and thoroughly compared naive…
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: The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans 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: Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation Open
Mitochondrial ribosomes (mitoribosomes) have undergone substantial evolutionary structural remodeling accompanied by loss of ribosomal RNA, while acquiring unique protein subunits located on the periphery. We generated CRISPR-mediated knoc…
View article: <b>Efficient vascular and neural engraftment of stem cell-derived islets</b>
<b>Efficient vascular and neural engraftment of stem cell-derived islets</b> Open
Pluripotent stem cell-derived islets (SC-islets) now emerge as a new source for beta-cell replacement therapy. While the function of human islet transplants is hampered by excessive cell death post-transplantation, contributing factors inc…
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: Efficient Vascular and Neural Engraftment of Stem Cell–Derived Islets
Efficient Vascular and Neural Engraftment of Stem Cell–Derived Islets Open
Pluripotent stem cell–derived islets (SC-islets) have emerged as a new source for β-cell replacement therapy. The function of human islet transplants is hampered by excessive cell death posttransplantation; contributing factors include inf…
View article: <b>Efficient vascular and neural engraftment of stem cell-derived islets</b>
<b>Efficient vascular and neural engraftment of stem cell-derived islets</b> Open
Pluripotent stem cell-derived islets (SC-islets) now emerge as a new source for beta-cell replacement therapy. While the function of human islet transplants is hampered by excessive cell death post-transplantation, contributing factors inc…
View article: <b>Efficient vascular and neural engraftment of stem cell-derived islets</b>
<b>Efficient vascular and neural engraftment of stem cell-derived islets</b> Open
Pluripotent stem cell-derived islets (SC-islets) now emerge as a new source for beta-cell replacement therapy. While the function of human islet transplants is hampered by excessive cell death post-transplantation, contributing factors inc…
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: Primate-specific ZNF808 is essential for pancreatic development in humans
Primate-specific ZNF808 is essential for pancreatic development in humans Open
Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants in the primate-speci…
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: The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A
The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A Open
The biological purpose of long non-coding RNAs (lncRNAs) is poorly understood. Haploinsufficient mutations in HNF1A homeobox A ( HNF1A ), encoding a homeodomain transcription factor, cause diabetes mellitus. Here, we examine HASTER , the p…
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: Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells
Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells Open
View article: Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster
Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster Open
View article: Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation Open
Summary Mitochondrial ribosomes (mitoribosomes) have undergone substantial structural remodelling throughout evolution. Compared to their prokaryotic counterparts, mitoribosomes show a substantial loss of ribosomal RNA, whilst acquiring un…
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: CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells
CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells Open
View article: Primate-specific ZNF808 is essential for pancreatic development in humans
Primate-specific ZNF808 is essential for pancreatic development in humans Open
Summary Identifying genes linked to extreme phenotypes in humans has the potential to highlight new biological processes fundamental for human development. Here we report the identification of homozygous loss of function variants in the pr…
View article: <i>HASTER</i> is a transcriptional stabilizer of <i>HNF1A</i>
<i>HASTER</i> is a transcriptional stabilizer of <i>HNF1A</i> Open
The biological purpose and disease relevance of long noncoding RNAs (lncRNAs) is poorly understood. We examined HASTER , a lncRNA antisense to HNF1A . Haploinsufficient mutations in HNF1A , encoding a homeodomain transcription factor, caus…
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…