Zobrazeno 1 - 10
of 465
pro vyhledávání: '"C. Ahrens"'
Autor:
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-12 (2024)
Abstract Background Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gen
Externí odkaz:
https://doaj.org/article/def4ba97c6604af4a33718140917a76a
Autor:
Laura Ohl, Amanda Kuhs, Ryan Pluck, Emily Durham, Michael Noji, Nathan D. Philip, Zoltan Arany, Rebecca C. Ahrens-Nicklas
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101091- (2024)
Branched chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a recently described inherited neurometabolic disorder of branched chain amino acid (BCAA) metabolism implying increased BCAA catabolism. It has been hypothesized that a severe reduct
Externí odkaz:
https://doaj.org/article/f818517ac67c4b70a2e2d604114071d0
Publikováno v:
Plant-Environment Interactions, Vol 4, Iss 3, Pp 146-162 (2023)
Abstract Climate change is shifting temperatures from historical patterns, globally impacting forest composition and resilience. Seed germination is temperature‐sensitive, making the persistence of populations and colonization of available habitats
Externí odkaz:
https://doaj.org/article/7821c67e123c40f8acb9eb576959c817
Autor:
Dominique L. Brooks, Manuel J. Carrasco, Ping Qu, William H. Peranteau, Rebecca C. Ahrens-Nicklas, Kiran Musunuru, Mohamad-Gabriel Alameh, Xiao Wang
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-9 (2023)
Abstract Phenylketonuria (PKU), an autosomal recessive disorder caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene, results in the accumulation of blood phenylalanine (Phe) to neurotoxic levels. Current dietary and medical trea
Externí odkaz:
https://doaj.org/article/a955591fbb65411b9f8d9923910aa8ee
Autor:
Stephen J. Staklinski, Mario C. Chang, Rebecca C. Ahrens‐Nicklas, Shagun Kaur, Arianna K. Stefanatos, Elizabeth E. Dudenhausen, Matthew E. Merritt, Michael S. Kilberg
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 167-179 (2023)
Abstract Asparagine synthetase (ASNS) catalyzes the synthesis of asparagine (Asn) from aspartate and glutamine. Biallelic mutations in the ASNS gene result in ASNS Deficiency (ASNSD). Children with ASNSD exhibit congenital microcephaly, epileptic‐l
Externí odkaz:
https://doaj.org/article/43ff810be89c4f6e9718627d28111f9a
Autor:
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-21 (2023)
Abstract Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine‐generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular
Externí odkaz:
https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4
Autor:
Andrew J. Degnan, Victor M. Ho-Fung, Rebecca C. Ahrens-Nicklas, Christian A. Barrera, Suraj D. Serai, Dah-Jyuu Wang, Can Ficicioglu
Publikováno v:
Insights into Imaging, Vol 10, Iss 1, Pp 1-19 (2019)
Abstract Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages (“Gaucher cells”) within multiple organs, most conspicuously affecting
Externí odkaz:
https://doaj.org/article/0f344bca3c1d4b459ab938f4eb4842c5
Autor:
Donald J. Joseph, Markus Von Deimling, Yuiko Hasegawa, Ana G. Cristancho, Rebecca C. Ahrens-Nicklas, Stephanie L. Rogers, Rashmi Risbud, Almedia J. McCoy, Eric D. Marsh
Publikováno v:
iScience, Vol 24, Iss 1, Pp 101999- (2021)
Summary: The transcription factor Aristaless-related X-linked gene (Arx) is a monogenic factor in early onset epileptic encephalopathies (EOEEs) and a fundamental regulator of early stages of brain development. However, Arx expression persists in mat
Externí odkaz:
https://doaj.org/article/a5db16db7a2f493c8bdc39b73ee9bb56
Autor:
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 24 (2022)
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes. The
Externí odkaz:
https://doaj.org/article/018239cea8904a618109a82df3f1a1e3
Autor:
Priyanka Anvekar, Paul Stephens, Renzo JC. Caldero-Anyosa, Hunter Kauffman, Danielle S. Burstein, Alyssa L. Ritter, Rebecca C. Ahrens-Nicklas, Victoria L. Vetter, Anirban Banerjee
Background In children with hypertrophic cardiomyopathy (HCM), the genotype-phenotype association of abnormal electrocardiographic (ECG) features in the backdrop of gene positivity have not been well described. This study aimed to describe abnormal E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9342adcb6e417bbc120b559927bc19c0
https://doi.org/10.21203/rs.3.rs-2886949/v1
https://doi.org/10.21203/rs.3.rs-2886949/v1
