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Jonas Denecke
University of Hamburg
25Publications
6H-index
97Citations
Publications 28
Newest
#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...
Source
#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...
Source
#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
view all 20 authors...
Source
#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...
Source
#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
view all 20 authors...
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
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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
#1Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
#2Fanny Kortüm (UHH: University of Hamburg)H-Index: 10
Last.René Santer (UHH: University of Hamburg)H-Index: 26
view all 7 authors...
The human WWOX (WW domain-containing oxidoreductase) gene, originally known as a tumor suppressor gene, has been shown to be important for brain function and development. In recent years, mutations in WWOX have been associated with a wide phenotypic spectrum of autosomal recessively inherited neurodevelopmental disorders. Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. Functional WWOX analysis was performed in fibroblasts of on...
4 CitationsSource
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