Huppke, Peter

[["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","The FASEB Journal"],["dc.bibliographiccitation.volume","20"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Dutschmann, Mathias"],["dc.date.accessioned","2018-11-07T10:08:11Z"],["dc.date.available","2018-11-07T10:08:11Z"],["dc.date.issued","2006"],["dc.format.extent","A373"],["dc.identifier.isi","000236206503112"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39424"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Federation Amer Soc Exp Biol"],["dc.publisher.place","Bethesda"],["dc.relation.conference","Experimental Biology 2006 Meeting"],["dc.relation.eventlocation","San Francisco, CA"],["dc.relation.issn","0892-6638"],["dc.title","The C57BL/6J mouse strain: An animal model to study spontaneous obstructive apnoea?"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","61"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American journal of human genetics"],["dc.bibliographiccitation.lastpage","68"],["dc.bibliographiccitation.volume","90"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Brendel, Cornelia"],["dc.contributor.author","Kalscheuer, Vera"],["dc.contributor.author","Korenke, Georg Christoph"],["dc.contributor.author","Marquardt, Iris"],["dc.contributor.author","Freisinger, Peter"],["dc.contributor.author","Christodoulou, John"],["dc.contributor.author","Hillebrand, Merle"],["dc.contributor.author","Pitelet, Gaele"],["dc.contributor.author","Wilson, Callum"],["dc.contributor.author","Gruber-Sedlmayr, Ursula"],["dc.contributor.author","Ullmann, Reinhard"],["dc.contributor.author","Haas, Stefan"],["dc.contributor.author","Elpeleg, Orly"],["dc.contributor.author","Nürnberg, Gudrun"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Dad, Shzeena"],["dc.contributor.author","Moller, Lisbeth Birk"],["dc.contributor.author","Kaler, Stephen G."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:49:01Z"],["dc.date.available","2017-09-07T11:49:01Z"],["dc.date.issued","2012"],["dc.description.abstract","Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts, hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in SLC33A1 encoding a highly conserved acetylCoA transporter (AT-1) required for acetylation of multiple gangliosides and glycoproteins. The mutations were found to cause reduced or absent AT-1 expression and abnormal intracellular localization of the protein. We also showed that AT-1 knockdown in HepG2 cells leads to reduced ceruloplasmin secretion, indicating that the low copper in serum is due to reduced ceruloplasmin levels and is not a sign of copper deficiency. The severity of the phenotype implies an essential role of AT-1 in proper posttranslational modification of numerous proteins, without which normal lens and brain development is interrupted. Furthermore, AT-1 defects are a new and important differential diagnosis in patients with low copper and ceruloplasmin in serum."],["dc.identifier.doi","10.1016/j.ajhg.2011.11.030"],["dc.identifier.gro","3142590"],["dc.identifier.isi","000299409100005"],["dc.identifier.pmid","22243965"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8957"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0002-9297"],["dc.title","Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","89"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Neuropädiatrie in Klinik und Praxis"],["dc.bibliographiccitation.lastpage","91"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Müller-Wielsch, K."],["dc.contributor.author","Huppke, P."],["dc.contributor.author","Gärtner, J."],["dc.date.accessioned","2018-02-15T09:50:25Z"],["dc.date.available","2018-02-15T09:50:25Z"],["dc.date.issued","2011"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12253"],["dc.language.iso","de"],["dc.notes.status","final"],["dc.relation.issn","1619-3873"],["dc.title","Entwicklungsverzögerung im Säuglingsalter durch alimentären Vitamin B12-Mangel."],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","10"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","European Journal of Paediatric Neurology"],["dc.bibliographiccitation.lastpage","16"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Koehler, Karola"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:49:52Z"],["dc.date.available","2017-09-07T11:49:52Z"],["dc.date.issued","2007"],["dc.description.abstract","Introduction: Epilepsy is very frequent in Rett syndrome (RTT) patients and often difficult to treat. Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. Purpose: To find the optimal treatment for epilepsy in RTT. Methods: We performed a retrospective study on 110 female patients with confirmed MECP2 mutations. Results: The median age was 10 years, 58% had a history of epilepsy and 55% received antiepileptic drugs (AEDs). Only sulthiame, carbamazepine and valproate were administered in an adequate frequency to allow statistical analysis. The best anticonvulsive results were seen in the RTT group that was treated with carbamazepine. Sulthiame was slightly less effective while valproate was significantly less effective. The rate of side effects was equivalent in all groups. In conclusion, carbamazepine should be recommended as first choice AED in RTT. If carbamazepine is not effective or not well tolerated sulthiame ought to be taken as second choice AED. (c) 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.ejpn.2006.09.003"],["dc.identifier.gro","3143557"],["dc.identifier.isi","000244178200002"],["dc.identifier.pmid","17178248"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1084"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Sci Ltd"],["dc.relation.issn","1090-3798"],["dc.title","Treatment of epilepsy in Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","74"],["dc.bibliographiccitation.journal","BMC Neurology"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Kettwig, Matthias"],["dc.contributor.author","Elpeleg, Orly"],["dc.contributor.author","Wegener, Eike"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Huppke, Peter"],["dc.date.accessioned","2017-09-07T11:44:54Z"],["dc.date.available","2017-09-07T11:44:54Z"],["dc.date.issued","2016"],["dc.description.abstract","Background: Mutations in proteins involved in the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway are associated with autosomal recessive forms of intellectual disability. Recently mutations in the PGAP1 gene that codes for PGAP1, a protein localized in the endoplasmic reticulum responsible for the first step of the remodeling of glycosylphosphatidylinositol was linked to a disorder characterized by psychomotor retardation and facial dysmorphism. Whole exome sequencing (WES) was performed in siblings with severely delayed myelination and psychomotor retardation. Mutations in PGAP1 were confirmed by Sanger sequencing and RNA analysis. A literature search was performed to describe the emerging phenotype of PGAP1 related disease. Case presentation: WES resulted in the detection of two novel compound heterozygous mutations in PGAP1, one base pair insertion leading to a frame shift c.334_335InsA (p.A112fs) and a splice site mutation leading to exon skipping c.G1173C (p.L391L). A symptom not described in PGAP1 related disorder before but prominent in the siblings were recurrent apnea especially during sleep that persisted at least until age 2 years. Sequential cerebral MRI at age one and two year(s) respectively revealed frontal accentuated brain atrophy and significantly delayed myelination. Conclusion: We report siblings with two novel mutations in PGAP1. Other that the common symptoms related to PGAP1 mutations including non-progressive psychomotor retardation, neonatal feeding problems, microcephaly and brain atrophy these patients displayed severely delayed myelination and recurrent apneas thereby widing the clinical spectrum associated with such mutations."],["dc.identifier.doi","10.1186/s12883-016-0602-7"],["dc.identifier.gro","3141684"],["dc.identifier.isi","000376577000003"],["dc.identifier.pmid","27206732"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13279"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8872"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1471-2377"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review"],["dc.type","review"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","306"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","317"],["dc.bibliographiccitation.volume","92"],["dc.contributor.author","Peña-Quintana, L."],["dc.contributor.author","Scherer, G."],["dc.contributor.author","Curbelo-Estévez, M.L."],["dc.contributor.author","Jiménez-Acosta, F."],["dc.contributor.author","Hartmann, B."],["dc.contributor.author","La Roche, F."],["dc.contributor.author","Meavilla-Olivas, S."],["dc.contributor.author","Pérez-Cerdá, C."],["dc.contributor.author","García-Segarra, N."],["dc.contributor.author","Giguère, Y."],["dc.contributor.author","Huppke, P."],["dc.contributor.author","Mitchell, G.A."],["dc.contributor.author","Mönch, E."],["dc.contributor.author","Trump, D."],["dc.contributor.author","Vianey-Saban, C."],["dc.contributor.author","Trimble, E.R."],["dc.contributor.author","Vitoria-Miñana, I."],["dc.contributor.author","Reyes-Suárez, D."],["dc.contributor.author","Ramírez-Lorenzo, T."],["dc.contributor.author","Tugores, A."],["dc.date.accessioned","2020-12-10T18:27:08Z"],["dc.date.available","2020-12-10T18:27:08Z"],["dc.date.issued","2017"],["dc.identifier.doi","10.1111/cge.13003"],["dc.identifier.issn","0009-9163"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/76250"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","234"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.lastpage","244"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Junemann, I."],["dc.contributor.author","Whatley, S."],["dc.contributor.author","Morgan, R."],["dc.contributor.author","Butler, R."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Ravine, D."],["dc.date.accessioned","2018-11-07T10:52:37Z"],["dc.date.available","2018-11-07T10:52:37Z"],["dc.date.issued","2004"],["dc.description.abstract","MECP2 mutations are responsible for Rett syndrome (RTT). Approximately a quarter of classic RTT cases, however, do not have an identifiable mutation of the MECP2 gene. We hypothesized that larger deletions arising from a deletion prone region (DPR) occur commonly and are not being routinely detected by the current PCR-mediated screening strategies. We developed and applied a quantitative PCR strategy (qPCR) to samples referred for diagnostic assessment from 140 patients among whom RTT was strongly suspected and from a second selected group of 31 girls with classical RTT. Earlier MECP2 mutation screening in both groups of patients had yielded a wild,type result. We identified 10 large deletions (7.1%) within the first group and five deletions in the second group (16.1%). Sequencing of the breakpoints in 11 cases revealed that eight cases had one breakpoint within the DPR. Among seven cases, the breakpoint distant to the DPR involved one of several Alu repeats. Sequence analysis of the junction sequences revealed that eight cases had complex rearrangements. Examination of the MECP2 genomic sequence reveals that it is highly enriched for repeat elements, with the content of Alu repeats rising to 27.8% in intron 2, in which there was an abundance of breakpoints among our patients. Furthermore, a perfect chi sequence, known to be recombinogenic in E. coli, is located in the DPR. We propose that the chi sequence and Alu repeats are potent factors contributing to genomic rearrangement. We suggest that routine mutation screening in MECP2 should include quantitative analysis of the genomic sequences flanking the DPR. (C) 2004 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/humu.20004"],["dc.identifier.isi","000220019900005"],["dc.identifier.pmid","14974082"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49153"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1059-7794"],["dc.title","Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","e2290"],["dc.bibliographiccitation.issue","22"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","e2301"],["dc.bibliographiccitation.volume","94"],["dc.contributor.author","Syrbe, Steffen"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Bally, Julien"],["dc.contributor.author","Borggraefe, Ingo"],["dc.contributor.author","Bien, Corinna I."],["dc.contributor.author","Ferfoglia, Ruxandra Iancu"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Kern, Jan"],["dc.contributor.author","Polster, Tilman"],["dc.contributor.author","Probst-Müller, Elisabeth"],["dc.contributor.author","Schmid, Silvia"],["dc.contributor.author","Steinfeld, Robert"],["dc.contributor.author","Strozzi, Susi"],["dc.contributor.author","Weichselbaum, Annette"],["dc.contributor.author","Weitz, Marcus"],["dc.contributor.author","Ziegler, Andreas"],["dc.contributor.author","Wandinger, Klaus-Peter"],["dc.contributor.author","Leypoldt, Frank"],["dc.contributor.author","Bien, Christian G."],["dc.date.accessioned","2021-04-14T08:25:14Z"],["dc.date.available","2021-04-14T08:25:14Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1212/WNL.0000000000009523"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/81563"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.eissn","1526-632X"],["dc.relation.issn","0028-3878"],["dc.title","CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.volume","78"],["dc.contributor.author","Balint, Bettina"],["dc.contributor.author","Haas, Juergen"],["dc.contributor.author","Schwarz, Alexander"],["dc.contributor.author","Fuerwentsches, Alexandra"],["dc.contributor.author","Ebinger, Friedrich"],["dc.contributor.author","Fritzsching, Benedikt"],["dc.contributor.author","Seidel, Ulrich"],["dc.contributor.author","Paul, Friedemann"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Wildemann, Brigitte"],["dc.date.accessioned","2018-11-07T09:11:32Z"],["dc.date.available","2018-11-07T09:11:32Z"],["dc.date.issued","2012"],["dc.identifier.isi","000303204801235"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26742"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.publisher.place","Philadelphia"],["dc.relation.eventlocation","New Orleans, LA"],["dc.relation.issn","0028-3878"],["dc.title","B Cells and Subsets in Pediatric-Onset Relapsing-Remitting Multiple Sclerosis: Similarities and Differences to Adult-Onset Disease"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","75"],["dc.bibliographiccitation.lastpage","85"],["dc.contributor.author","Gärtner, J."],["dc.contributor.author","Huppke, P."],["dc.contributor.editor","Schmidt, R."],["dc.contributor.editor","Hoffmann, F."],["dc.contributor.editor","Faiss, J."],["dc.contributor.editor","Köhler, W."],["dc.date.accessioned","2018-02-21T16:09:13Z"],["dc.date.available","2018-02-21T16:09:13Z"],["dc.date.issued","2015"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12411"],["dc.language.iso","de"],["dc.notes.status","final"],["dc.publisher","Urban & Fischer/Elsevier"],["dc.relation.isbn","978-3-437-22083-8"],["dc.relation.ispartof","Multiple Sklerose"],["dc.title","Pädiatrische Multiple Sklerose"],["dc.type","book_chapter"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]