Lista de obras - Michael Schwake - Dominio Público Uruguay

A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly

artículo científico publicado en 2003

A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand β-glucocerebrosidase.

artículo científico publicado en 2012

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

artículo científico publicado en 2011

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

artículo científico publicado en 2013

An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease

artículo científico publicado en 2000

BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (IKs)

artículo científico publicado en 2015

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

artículo científico publicado en 2021

Bimodal effects of the Kv7 channel activator retigabine on vascular K+ currents

artículo científico publicado en 2008

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2013

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.

artículo científico publicado en 2016

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease

artículo científico publicado en 2000

Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis

artículo científico publicado en 2006

Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators

artículo científico publicado en 2016

Expression profile and characterisation of a truncated KCNQ5 splice variant.

artículo científico publicado en 2008

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.

artículo científico publicado en 2017

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

artículo científico publicado en 2014

Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice

artículo científico publicado en 2016

Increased expression of (pro)renin receptor does not cause hypertension or cardiac and renal fibrosis in mice

artículo científico publicado en 2014

Involvement of lysosomal storage-induced p38 MAP kinase activation in the overproduction of nitric oxide by microglia in cathepsin D-deficient mice

artículo científico publicado en 2007

LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance

scientific journal article

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

artículo científico publicado en 2007

Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy

artículo científico publicado en 2007

Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease

artículo científico publicado en 2015

Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.

artículo científico publicado en 2017

Lysosomal membrane proteins and their central role in physiology

artículo científico publicado en 2013

Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.

artículo científico publicado en 2015

Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.

artículo científico publicado en 2005

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis

scientific journal article

Parallel regulation of renin and lysosomal integral membrane protein 2 in renin-producing cells: further evidence for a lysosomal nature of renin secretory vesicles

artículo científico publicado en 2012

Pharmacological dissection of Kv7.1 channels in systemic and pulmonary arteries ⬇️

artículo científico publicado el 1 de junio de 2012

Phenotypic and biochemical analyses of BACE1- and BACE2-deficient mice

artículo científico publicado en 2005

Polo-like kinase 2, a novel ADAM17 signaling component, regulates tumor necrosis factor α ectodomain shedding

artículo científico publicado en 2013

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

artículo científico publicado en 2017

Proliferation-based T-cell selection for immunotherapy and graft-versus-host-disease prophylaxis in the context of bone marrow transplantation.

artículo científico publicado en 2006

Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K+ channels.

artículo científico publicado en 2008

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

artículo científico publicado en 2016

Self-assembly of the isolated KCNQ2 subunit interaction domain

artículo científico publicado en 2007

Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled α-subunits ⬇️

artículo científico publicado el 27 de diciembre de 2010

Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.

artículo científico publicado en 2006

Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36

artículo científico publicado en 2013

Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

artículo científico publicado en 2000

Tetraspanin15 regulates cellular trafficking and activity of the ectodomain sheddase ADAM10.

artículo científico publicado en 2012

The new KCNQ2 activator 4-Chlor-N-(6-chlor-pyridin-3-yl)-benzamid displays anticonvulsant potential.

artículo científico publicado en 2013

Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2

artículo científico publicado en 2011

VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons

artículo científico publicado en 2024

Vacuolar ATPase in phagosome-lysosome fusion.

artículo científico publicado en 2015

β-Secretase BACE1 regulates hippocampal and reconstituted M-currents in a β-subunit-like fashion.

artículo científico publicado en 2015

Lista de obras de Michael Schwake

A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly

A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand β-glucocerebrosidase.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease

BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (IKs)

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Bimodal effects of the Kv7 channel activator retigabine on vascular K+ currents

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease

Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis

Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators

Expression profile and characterisation of a truncated KCNQ5 splice variant.

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice

Increased expression of (pro)renin receptor does not cause hypertension or cardiac and renal fibrosis in mice

Involvement of lysosomal storage-induced p38 MAP kinase activation in the overproduction of nitric oxide by microglia in cathepsin D-deficient mice

LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy

Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease

Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.

Lysosomal membrane proteins and their central role in physiology

Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.

Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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

Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis

Parallel regulation of renin and lysosomal integral membrane protein 2 in renin-producing cells: further evidence for a lysosomal nature of renin secretory vesicles

Pharmacological dissection of Kv7.1 channels in systemic and pulmonary arteries ⬇️

Phenotypic and biochemical analyses of BACE1- and BACE2-deficient mice

Polo-like kinase 2, a novel ADAM17 signaling component, regulates tumor necrosis factor α ectodomain shedding

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

Proliferation-based T-cell selection for immunotherapy and graft-versus-host-disease prophylaxis in the context of bone marrow transplantation.

Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K+ channels.

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

Self-assembly of the isolated KCNQ2 subunit interaction domain

Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled α-subunits ⬇️

Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.

Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36

Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

Tetraspanin15 regulates cellular trafficking and activity of the ectodomain sheddase ADAM10.

The new KCNQ2 activator 4-Chlor-N-(6-chlor-pyridin-3-yl)-benzamid displays anticonvulsant potential.

Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2

VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons

Vacuolar ATPase in phagosome-lysosome fusion.

β-Secretase BACE1 regulates hippocampal and reconstituted M-currents in a β-subunit-like fashion.