Lista de obras - Matias Simons - Dominio Público Uruguay

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

artículo científico publicado en 2018

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria

article

APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes

artículo científico publicado en 2016

Directed membrane transport is involved in process formation in cultured podocytes

artículo científico publicado en 1999

Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking

scientific journal article

Electrochemical cues regulate assembly of the Frizzled/Dishevelled complex at the plasma membrane during planar epithelial polarization.

artículo científico publicado en 2009

Elevated expression of the V-ATPase C subunit triggers JNK-dependent cell invasion and overgrowth in a Drosophila epithelium

artículo científico publicado en 2013

Exome-wide association study on Albuminuria identifies a novel rare variant in CUBN and additional genes, in 33,985 Europeans with and without diabetes

article

Flies With Skin Blisters.

artículo científico publicado en 2015

Flying podocytes

artículo científico publicado en 2009

Functional study of mammalian Neph proteins in Drosophila melanogaster

artículo científico publicado en 2012

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

artículo científico publicado en 2005

Involvement of lipid rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm

artículo científico publicado en 2001

It's not all about nephrin

artículo científico publicado en 2008

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

artículo científico publicado en 2003

Mutations in ATP6AP2 cause autophagic liver disease in humans

artículo científico publicado en 2018

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

artículo científico publicado en 2017

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

artículo científico publicado en 2017

Nephrologists sans frontières: On the metamorphosis of turning into a fly geneticist.

artículo científico publicado en 2006

Novel concepts in understanding and management of glomerular proteinuria.

artículo científico publicado en 2002

Old friends form alliance against podocytes

article

Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels

artículo científico publicado en 2006

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin

artículo científico publicado en 2001

Podocyte polarity signalling.

artículo científico publicado en 2009

Polycystic kidney disease: cell division without a c(l)ue?

artículo científico publicado en 2006

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

artículo científico publicado en 2016

Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes

artículo científico publicado en 2022

Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit

artículo científico publicado en 2010

Renal Atp6ap2/(Pro)renin Receptor Is Required for Normal Vacuolar H+-ATPase Function but Not for the Renin-Angiotensin System.

artículo científico publicado en 2016

Spontaneous and electric field-controlled front-rear polarization of human keratinocytes

artículo científico publicado en 2015

Targeting mTOR Signaling Can Prevent the Progression of FSGS.

artículo científico publicado en 2017

The role of proton transporters in epithelial Wnt signaling pathways.

scientific article published on 05 March 2011

Using Drosophila nephrocytes in genetic kidney disease.

artículo científico publicado en 2017

V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis

artículo científico publicado en 2014

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

artículo científico publicado en 2016

Lista de obras de Matias Simons

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria

APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes

Directed membrane transport is involved in process formation in cultured podocytes

Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking

Electrochemical cues regulate assembly of the Frizzled/Dishevelled complex at the plasma membrane during planar epithelial polarization.

Elevated expression of the V-ATPase C subunit triggers JNK-dependent cell invasion and overgrowth in a Drosophila epithelium

Exome-wide association study on Albuminuria identifies a novel rare variant in CUBN and additional genes, in 33,985 Europeans with and without diabetes

Flies With Skin Blisters.

Flying podocytes

Functional study of mammalian Neph proteins in Drosophila melanogaster

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

Involvement of lipid rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm

It's not all about nephrin

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

Mutations in ATP6AP2 cause autophagic liver disease in humans

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Nephrologists sans frontières: On the metamorphosis of turning into a fly geneticist.

Novel concepts in understanding and management of glomerular proteinuria.

Old friends form alliance against podocytes

Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin

Podocyte polarity signalling.

Polycystic kidney disease: cell division without a c(l)ue?

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes

Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit

Renal Atp6ap2/(Pro)renin Receptor Is Required for Normal Vacuolar H+-ATPase Function but Not for the Renin-Angiotensin System.

Spontaneous and electric field-controlled front-rear polarization of human keratinocytes

Targeting mTOR Signaling Can Prevent the Progression of FSGS.

The role of proton transporters in epithelial Wnt signaling pathways.

Using Drosophila nephrocytes in genetic kidney disease.

V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)