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Book ; Thesis: Vergleichende Untersuchungen zur Alkoholdelinquenz und Alkoholverträglichkeit bei Jugendlichen in den Jahren 1985 und 1990

Neu, Axel

1997

Author's details	vorgelegt von Axel Neu
Language	German
Size	102 S. : graph. Darst.
Document type	Book ; Thesis
Thesis / German Habilitation thesis	Bonn, Univ., Diss., 1997
HBZ-ID	HT007596181
Database	Catalogue ZB MED Medicine, Health

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Book ; Online ; Thesis: Untersuchungen zur Expression von AGAT, GAMT und Ct1 in Knockout-Mausmodellen

Ahadi, Schabira [Verfasser] / Neu, Axel [Akademischer Betreuer]

2023

Author's details	Schabira Ahadi ; Betreuer: Axel Neu
Keywords	Medizin, Gesundheit ; Medicine, Health
Subject code	sg610
Language	German
Publisher	Staats- und Universitätsbibliothek Hamburg Carl von Ossietzky
Publishing place	Hamburg
Document type	Book ; Online ; Thesis
Database	Digital theses on the web

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Article ; Online: Developmental dynamics of homoarginine, ADMA and SDMA plasma levels from birth to adolescence.

Baach, Florence / Meyer, Boglarka / Oh, Jun / Lezius, Susanne / Böger, Rainer / Schwedhelm, Edzard / Choe, Chi-Un / Neu, Axel

Amino acids

2023 Volume 55, Issue 10, Page(s) 1381–1388

Abstract: Guanidino compounds such as dimethylarginines (SDMA, ADMA) and L-homoarginine ((L-)hArg) can interfere with bioavailability and function of the main NO-donor L-arginine (L-Arg). High ADMA and SDMA but low L-hArg concentrations have been associated with ... ...

Abstract	Guanidino compounds such as dimethylarginines (SDMA, ADMA) and L-homoarginine ((L-)hArg) can interfere with bioavailability and function of the main NO-donor L-arginine (L-Arg). High ADMA and SDMA but low L-hArg concentrations have been associated with cardio- and cerebrovascular events and mortality in adults. The role of guanidino compounds in paediatric patients remains less clear. We, therefore, compared guanidino compound levels in plasma samples of 57 individuals with chronic kidney disease (CKD) and 141 individuals without CKD from the age of 0 to 17 years, including patients with different comorbidities by correlation and regression analyses. We found highest hArg, SDMA and ADMA concentrations in neonates (Kruskal-Wallis, p < 0.001 for all). From the age of 1 year on, hArg levels increased, whereas SDMA und ADMA levels further decreased in children. SDMA and ADMA are higher in children with CKD independent of GFR (mean factor 1.92 and 1.38, respectively, p < 0.001 for both), and SDMA is strongly correlated with creatinine concentration in children with CKD (Spearman's rho 0.74, p < 0.001). We provide guanidino compound levels in a large sample covering all paediatric age groups for the first time. Our data can be used to assess the role of guanidino compounds such as hArg in disease states, i.e. cerebro- and cardiovascular disorders in childhood and adolescence.
MeSH term(s)	Adult ; Infant, Newborn ; Humans ; Adolescent ; Child ; Infant ; Child, Preschool ; Homoarginine ; Arginine ; Cardiovascular Diseases ; Renal Insufficiency, Chronic ; Heart
Chemical Substances	Homoarginine (156-86-5) ; Arginine (94ZLA3W45F)
Language	English
Publishing date	2023-08-30
Publishing country	Austria
Document type	Journal Article
ZDB-ID	1121341-3
ISSN	1438-2199 ; 0939-4451
ISSN (online)	1438-2199
ISSN	0939-4451
DOI	10.1007/s00726-023-03318-w
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.

Kloth, Katja / Neu, Axel / Rau, Isabella / Hülsemann, Wiebke / Kutsche, Kerstin / Volk, Alexander E

European journal of medical genetics

2021 Volume 64, Issue 3, Page(s) 104161

Abstract: Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Classical ...

Abstract	Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Classical CCA is characterized by long and slender fingers and toes, ear deformities, joint contractures at birth, clubfeet, muscular hypoplasia and often tall stature. In individuals with a severe CCA form, different cardiovascular or gastrointestinal anomalies have been described. Here, we report on a 15-year-old girl with a severe form of CCA and novel biallelic variants in FBN2. The girl inherited the missense variant c.3563G > T/p.(Gly1188Val) from her unaffected father and the nonsense variant c.6831C > A/p.(Cys2277*) from her healthy mother. We could detect only a small amount of FBN2 transcripts harboring the nonsense variant in leukocyte-derived mRNA from the patient and mother suggesting nonsense-mediated mRNA decay. As the father did not show any clinical signs of CCA we hypothesize the missense variant c.3563G > T to be a hypomorphic allele. Taken together, our data suggests that severe CCA can be inherited in an autosomal-recessive manner by compound heterozygosity of a hypomorphic and a null allele of the FBN2 gene.
MeSH term(s)	Adolescent ; Alleles ; Arachnodactyly/genetics ; Arachnodactyly/pathology ; Contracture/genetics ; Contracture/pathology ; Female ; Fibrillin-2/genetics ; Humans ; Mutation
Chemical Substances	FBN2 protein, human ; Fibrillin-2
Language	English
Publishing date	2021-02-09
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2021.104161
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Creatine, guanidinoacetate and homoarginine in statin-induced myopathy

Neu, Axel / Hornig, Sönke / Sasani, Ali / Isbrandt, Dirk / Gerloff, Christian / Tsikas, Dimitris / Schwedhelm, Edzard / Choe, Chi-un

Amino acids. 2020 July, v. 52, no. 6-7

2020

Abstract: Our study evaluated the effect of creatine and homoarginine in AGAT- and GAMT-deficient mice after simvastatin exposure. Balestrino and Adriano suggest that guanidinoacetate might explain the difference between AGAT- and GAMT-deficient mice in ... ...

Abstract	Our study evaluated the effect of creatine and homoarginine in AGAT- and GAMT-deficient mice after simvastatin exposure. Balestrino and Adriano suggest that guanidinoacetate might explain the difference between AGAT- and GAMT-deficient mice in simvastatin-induced myopathy. We agree with Balestrino and Adriano that our data shows that (1) creatine possesses a protective potential to ameliorate statin-induced myopathy in humans and mice and (2) homoarginine did not reveal a beneficial effect in statin-induced myopathy. Third, we agree that guanidinoacetate can be phosphorylated and partially compensate for phosphocreatine. In our study, simvastatin-induced damage showed a trend to be less pronounced in GAMT-deficient mice compared with wildtype mice. Therefore, (phospo) guanidinoacetate cannot completely explain the milder phenotype of GAMT-deficient mice, but we agree that it might contribute to ameliorate statin-induced myopathy in GAMT-deficient mice compared with AGAT-deficient mice. Finally, we agree with Balestino and Adriano that AGAT metabolites should further be evaluated as potential treatments in statin-induced myopathy.
Keywords	creatine ; metabolites ; muscular diseases ; phenotype ; phosphocreatine ; simvastatin
Language	English
Dates of publication	2020-07
Size	p. 1067-1069.
Publishing place	Springer Vienna
Document type	Article
Note	NAL-AP-2-clean ; Letter
ZDB-ID	1121341-3
ISSN	1438-2199 ; 0939-4451
ISSN (online)	1438-2199
ISSN	0939-4451
DOI	10.1007/s00726-020-02865-w
Database	NAL-Catalogue (AGRICOLA)

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Article ; Conference proceedings: Griscelli Syndrome Type 1: When the Hair Becomes Gray in Children

Driemeyer, Joenna / Scholz, Tasja / Weiss, Deike / Neu, Axel / Johannsen, Jessika / Denecke, Jonas

Neuropediatrics

2021 Volume 52, Issue S 01

Event/congress	Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics, Salzburg, 2021-11-05
Language	English
Publishing date	2021-10-28
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article ; Conference proceedings
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-0041-1739601
Database	Thieme publisher's database

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Article ; Online: de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.

Schneeberger, Pauline E / Bierhals, Tatjana / Neu, Axel / Hempel, Maja / Kutsche, Kerstin

Scientific reports

2019 Volume 9, Issue 1, Page(s) 12516

Abstract: In eukaryotes, the elongation phase of transcription by RNA polymerase II (RNAP II) is regulated by the transcription elongation factor b (P-TEFb), composed of Cyclin-T1 and cyclin-dependent kinase 9. The release of RNAP II is mediated by phosphorylation ...

Abstract	In eukaryotes, the elongation phase of transcription by RNA polymerase II (RNAP II) is regulated by the transcription elongation factor b (P-TEFb), composed of Cyclin-T1 and cyclin-dependent kinase 9. The release of RNAP II is mediated by phosphorylation through P-TEFb that in turn is under control by the inhibitory 7SK small nuclear ribonucleoprotein (snRNP) complex. The 7SK snRNP consists of the 7SK non-coding RNA and the proteins MEPCE, LARP7, and HEXIM1/2. Biallelic LARP7 loss-of-function variants underlie Alazami syndrome characterized by growth retardation and intellectual disability. We report a boy with global developmental delay and seizures carrying the de novo MEPCE nonsense variant c.1552 C > T/p.(Arg518*). mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Reduced binding of HEXIM1 to Cyclin-T1, hyperphosphorylation of the RNAP II C-terminal domain, and upregulated expression of ID2, ID3, MRPL11 and snRNAs U1, U2 and U4 in patient cells are suggestive of enhanced activation of P-TEFb. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
MeSH term(s)	Child ; Child, Preschool ; Codon, Nonsense ; Humans ; Male ; Methyltransferases/genetics ; Methyltransferases/metabolism ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/metabolism ; Positive Transcriptional Elongation Factor B/genetics ; Positive Transcriptional Elongation Factor B/metabolism ; RNA Polymerase II/genetics ; RNA Polymerase II/metabolism ; RNA, Small Nuclear/genetics ; RNA, Small Nuclear/metabolism ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism ; Ribonucleoproteins/genetics ; Ribonucleoproteins/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Transcription, Genetic
Chemical Substances	Codon, Nonsense ; HEXIM1 protein, human ; Larp7 protein, human ; RNA, Small Nuclear ; RNA-Binding Proteins ; Ribonucleoproteins ; Transcription Factors ; MePCE protein, human (EC 2.1.1.-) ; Methyltransferases (EC 2.1.1.-) ; Positive Transcriptional Elongation Factor B (EC 2.7.11.-) ; RNA Polymerase II (EC 2.7.7.-)
Language	English
Publishing date	2019-08-29
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-019-49032-0
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Final Validation of the Quality of Life after Brain Injury for Children and Adolescents (QOLIBRI-KID/ADO) Questionnaire.

von Steinbuechel, Nicole / Zeldovich, Marina / Timmermann, Dagmar / Krenz, Ugne / Koerte, Inga K / Bonfert, Michaela V / Berweck, Steffen / Kieslich, Matthias / Henrich, Marlene / Brockmann, Knut / Buchheim, Anna / Roediger, Maike / Lendt, Michael / Auer, Christian / Neu, Axel / Kaiser, Alexander / Driemeyer, Joenna / Greving, Sven / Wartemann, Ulrike /

Pinggera, Daniel / Thomé, Claudius / Suss, Joachim / Muehlan, Holger / Cunitz, Katrin

Children (Basel, Switzerland)

2024 Volume 11, Issue 4

Abstract: Until recently, no disease-specific health-related quality of life (HRQoL) questionnaire existed for pediatric traumatic brain injuries (TBIs). In this revalidation study, the psychometric properties and the validity of the 35-item QOLIBRI-KID/ADO ... ...

Abstract	Until recently, no disease-specific health-related quality of life (HRQoL) questionnaire existed for pediatric traumatic brain injuries (TBIs). In this revalidation study, the psychometric properties and the validity of the 35-item QOLIBRI-KID/ADO questionnaire in its final German version were examined in 300 children and adolescents. It is the first self-reported TBI-specific tool for measuring pediatric HRQoL in individuals aged between 8 and 17 years. The six-factor model fits the data adequately. The questionnaire's internal consistency was excellent for the total score and satisfactory to excellent for the scale scores. Intraclass correlations indicated good test-retest reliability, and the measure's construct validity was supported by the overlap between the QOLBRI-KID/ADO and the PedsQL, which measures generic HRQoL. The discriminant validity tests showed that older children and girls reported a significantly lower HRQoL than comparison groups, and this was also true of children who were anxious or depressed, or who suffered from post-concussion symptoms, replicating the results of the questionnaire's first developmental study. Our results suggest that the QOLIBRI-KID/ADO is a reliable and valid multidimensional tool that can be used together with the adult version in clinical contexts and research to measure disease-specific HRQoL after pediatric TBI throughout a person's life. This may help improve care, treatment, daily functioning, and HRQoL after TBI.
Language	English
Publishing date	2024-04-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children11040438
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Book ; Online ; Thesis: Funktionelle Analyse von Natrium- und Kaliumkanal-Mutationen aus Patienten mit Epilepsie-Syndromen

Gellermann, Janna [Verfasser] / Neu, Axel [Akademischer Betreuer]

2018

Author's details	Janna Gellermann ; Betreuer: Axel Neu
Keywords	Medizin, Gesundheit ; Medicine, Health
Subject code	sg610
Language	German
Publisher	Staats- und Universitätsbibliothek Hamburg
Publishing place	Hamburg
Document type	Book ; Online ; Thesis
Database	Digital theses on the web

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Article ; Online: Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.

Neu, Axel / Hornig, Sönke / Sasani, Ali / Isbrandt, Dirk / Gerloff, Christian / Tsikas, Dimitris / Schwedhelm, Edzard / Choe, Chi-Un

Amino acids

2020 Volume 52, Issue 6-7, Page(s) 1067–1069

Abstract	Our study evaluated the effect of creatine and homoarginine in AGAT- and GAMT-deficient mice after simvastatin exposure. Balestrino and Adriano suggest that guanidinoacetate might explain the difference between AGAT- and GAMT-deficient mice in simvastatin-induced myopathy. We agree with Balestrino and Adriano that our data shows that (1) creatine possesses a protective potential to ameliorate statin-induced myopathy in humans and mice and (2) homoarginine did not reveal a beneficial effect in statin-induced myopathy. Third, we agree that guanidinoacetate can be phosphorylated and partially compensate for phosphocreatine. In our study, simvastatin-induced damage showed a trend to be less pronounced in GAMT-deficient mice compared with wildtype mice. Therefore, (phospo) guanidinoacetate cannot completely explain the milder phenotype of GAMT-deficient mice, but we agree that it might contribute to ameliorate statin-induced myopathy in GAMT-deficient mice compared with AGAT-deficient mice. Finally, we agree with Balestino and Adriano that AGAT metabolites should further be evaluated as potential treatments in statin-induced myopathy.
MeSH term(s)	Amidinotransferases/deficiency ; Amino Acid Metabolism, Inborn Errors ; Animals ; Creatine/metabolism ; Creatine/pharmacology ; Developmental Disabilities ; Glycine/analogs & derivatives ; Glycine/metabolism ; Guanidinoacetate N-Methyltransferase/deficiency ; Homoarginine/metabolism ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Intellectual Disability ; Mice ; Muscular Diseases/chemically induced ; Muscular Diseases/metabolism ; Phosphocreatine/metabolism ; Speech Disorders
Chemical Substances	Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Phosphocreatine (020IUV4N33) ; Homoarginine (156-86-5) ; Guanidinoacetate N-Methyltransferase (EC 2.1.1.2) ; Amidinotransferases (EC 2.1.4.-) ; glycocyamine (GO52O1A04E) ; Creatine (MU72812GK0) ; Glycine (TE7660XO1C)
Language	English
Publishing date	2020-06-27
Publishing country	Austria
Document type	Letter
ZDB-ID	1121341-3
ISSN	1438-2199 ; 0939-4451
ISSN (online)	1438-2199
ISSN	0939-4451
DOI	10.1007/s00726-020-02865-w
Database	MEDical Literature Analysis and Retrieval System OnLINE

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