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Jonas Denecke
University of Hamburg
PathologyPediatricsEpilepsyDiabetes mellitusMedicineBiology
25Publications
6H-index
97Citations
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Publications 29
Newest
#1Isabelle C. Windheuser (University Hospital Bonn)
#2James T. Becker (University Hospital Bonn)H-Index: 89
Last. Alexander M. Zink (University of Bonn)H-Index: 12
view all 22 authors...
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#1Gillian I. Rice (MAHSC: Manchester Academic Health Science Centre)H-Index: 38
#2Sehoon Park (Harvard University)
Last. Yanick J. Crow (Edin.: University of Edinburgh)H-Index: 60
view all 63 authors...
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 individuals from 51 families segregating a total of 27 like...
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#1Christopher C. Y. Mak (HKU: University of Hong Kong)H-Index: 4
#2Dan Doherty (Seattle Children's Research Institute)H-Index: 29
Last. Christopher T. Gordon (Paris V: Paris Descartes University)H-Index: 20
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#2Diana Mitter (University of Southern Denmark)
Last. Rikke S. MøllerH-Index: 36
view all 38 authors...
Objective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Comput...
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#1Sina K. Stumpf (MPG: Max Planck Society)H-Index: 4
#2Stefan A. Berghoff (MPG: Max Planck Society)H-Index: 4
Last. Gesine Saher (MPG: Max Planck Society)H-Index: 21
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#1Laura Hecher (UHH: University of Hamburg)
#2Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
Last. Jonas Denecke (UHH: University of Hamburg)H-Index: 6
view all 6 authors...
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#1Sina K. Stumpf (MPG: Max Planck Society)H-Index: 4
#2Stefan A. Berghoff (MPG: Max Planck Society)H-Index: 4
Last. Gesine Saher (MPG: Max Planck Society)H-Index: 21
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Pelizaeus–Merzbacher disease (PMD) is an untreatable and fatal leukodystrophy. In a model of PMD with perturbed blood–brain barrier integrity, cholesterol supplementation promotes myelin membrane growth. Here, we show that in contrast to the mouse model, dietary cholesterol in two PMD patients did not lead to a major advancement of hypomyelination, potentially because the intact blood–brain barrier precludes its entry into the CNS. We therefore turned to a PMD mouse model with preserved blood–br...
2 CitationsSource
#1Nastassja Himmelreich (Heidelberg University)H-Index: 4
#2Bianca Dimitrov (Heidelberg University)H-Index: 1
Last. Christian Thiel (Heidelberg University)H-Index: 8
view all 24 authors...
1 CitationsSource
#1Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
#2Tatjana Bierhals (UHH: University of Hamburg)H-Index: 6
Last. Jonas Denecke (UHH: University of Hamburg)H-Index: 6
view all 8 authors...
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#1Frederike L. Harms (UHH: University of Hamburg)H-Index: 4
#2Katja Kloth (UHH: University of Hamburg)H-Index: 3
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
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p21-activated kinases (PAKs) are serine/threonine protein kinases acting as effectors of CDC42 and RAC, which are members of the RHO family of small GTPases. PAK1’s kinase activity is autoinhibited by homodimerization, whereas CDC42 or RAC1 binding causes PAK1 activation by dimer dissociation. Major functions of the PAKs include actin cytoskeleton reorganization, for example regulation of the cellular protruding activity during cell spreading. We report the de novo PAK1 mutations c.392A>G (p.Tyr...
6 CitationsSource
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