UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 61

Sortiert nach

A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis

Developmental cell, 2013-09, Vol.26 (5), p.511-524

2013

Link zum Volltext

Verfügbarkeit prüfen

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

PloS one, 2013-10, Vol.8 (10), p.e77843

2013

Link zum Volltext

Verfügbarkeit prüfen

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

Annals of neurology, 2020-03, Vol.87 (3), p.339-346

2020

Link zum Volltext

Verfügbarkeit prüfen

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

Human molecular genetics, 2009-12, Vol.18 (24), p.4868-4878

2009

Link zum Volltext

Verfügbarkeit prüfen

In vivo, Pikfyve generates PI(3,5)P₂, which serves as both a signaling lipid and the major precursor for PI5P

Proceedings of the National Academy of Sciences - PNAS, 2012-10, Vol.109 (43), p.17472-17477

2012

Link zum Volltext

Verfügbarkeit prüfen

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

American journal of human genetics, 2013-05, Vol.92 (5), p.781-791

2013

Link zum Volltext

Verfügbarkeit prüfen

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

PLoS genetics, 2011-06, Vol.7 (6), p.e1002104-e1002104

2011

Link zum Volltext

Verfügbarkeit prüfen

Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms

BMC genomics, 2007-07, Vol.8 (1), p.237-237, Article 237

2007

Link zum Volltext

Verfügbarkeit prüfen

The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation

Journal of cell science, 2019-02, Vol.132 (5)

2019

Link zum Volltext

Verfügbarkeit prüfen

CRISPR knockout screen implicates three genes in lysosome function

Scientific reports, 2019-07, Vol.9 (1), p.9609-10, Article 9609

2019

Link zum Volltext

Verfügbarkeit prüfen

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

Brain (London, England : 1878), 2011-07, Vol.134 (7), p.1959-1971

2011

Link zum Volltext

Verfügbarkeit prüfen

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American journal of human genetics, 2016-07, Vol.99 (1), p.188-194

2016

Link zum Volltext

Verfügbarkeit prüfen

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Human molecular genetics, 2015-01, Vol.24 (2), p.383-396

2015

Link zum Volltext

Verfügbarkeit prüfen

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice

Molecular genetics and metabolism, 2022-12, Vol.137 (4), p.382-387

2022

Link zum Volltext

Verfügbarkeit prüfen

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c

G3 : genes - genomes - genetics, 2023-08, Vol.13 (8)

2023

Link zum Volltext

Verfügbarkeit prüfen

The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants

PLoS genetics, 2023-06, Vol.19 (6), p.e1010800-e1010800

2023

Link zum Volltext

Verfügbarkeit prüfen

PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration

Autophagy, 2010-01, Vol.6 (1), p.170-171

2010

Link zum Volltext

Verfügbarkeit prüfen

AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model

The Journal of clinical investigation, 2021-06, Vol.131 (11), p.1-11

2021

Link zum Volltext

Verfügbarkeit prüfen

Binding Sites for ETS Family of Transcription Factors Dominate the Promoter Regions of Differentially Expressed Genes in Abdominal Aortic Aneurysms

Circulation. Cardiovascular genetics, 2009-12, Vol.2 (6), p.565

2009

Link zum Volltext

Verfügbarkeit prüfen

Mouse Models of PI(3,5)P2 Deficiency with Impaired Lysosome Function

Methods in Enzymology, 2014, Vol.534, p.245-260

2014

Link zum Volltext

Verfügbarkeit prüfen

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

American journal of human genetics, 2009-01, Vol.84 (1), p.85-88

2009

Link zum Volltext

Verfügbarkeit prüfen

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Genetics in medicine, 2024-05, Vol.26 (5), p.101097, Article 101097

2024

Link zum Volltext

Verfügbarkeit prüfen

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Neurology, 2014-03, Vol.82 (12), p.1068

2014

Link zum Volltext

Verfügbarkeit prüfen

Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm

Physiological genomics, 2007-12, Vol.32 (1), p.45-57

2007

Link zum Volltext

Verfügbarkeit prüfen

Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms

BMC physiology, 2011-05, Vol.11 (1), p.9-9, Article 9

2011

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 61

Suche als RSS-Feed

Aktive Filter

Zeitschrift / SerieElife

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(58)
Mit Volltextzugriff
(58)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(40)
Life Sciences & Biomedicine
(37)
Humans
(33)
Animals
(19)
Flavoproteins - Genetics
(19)
Genetics & Heredity
(18)
Mice
(17)
Female
(14)
Male
(14)
Mutation
(14)
Genetics
(13)
Charcot-Marie-Tooth Disease - Genetics
(9)
Adult
(8)
Fig4
(8)
Phosphoinositide Phosphatases
(8)
Cell Biology
(7)
Flavoproteins - Metabolism
(7)
Genetic Aspects
(7)
Middle Aged
(7)
Neurology
(7)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 7 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

In vivo, Pikfyve generates PI(3,5)P₂, which serves as both a signaling lipid and the major precursor for PI5P

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms

The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation

CRISPR knockout screen implicates three genes in lysosome function

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c

The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants

PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration

AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model

Binding Sites for ETS Family of Transcription Factors Dominate the Promoter Regions of Differentially Expressed Genes in Abdominal Aortic Aneurysms

Mouse Models of PI(3,5)P2 Deficiency with Impaired Lysosome Function

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm

Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms

Aktive Filter

Suchergebnisse filtern