Results 41 to 50 of about 1,718,768 (214)

Machine Learning‐Driven Design of Multicomponent Bone Inorganic Matrix Mimicking Scaffolds for Osteogenesis Enhanced by Neurogenesis

Advanced Science, EarlyView.
Schematic illustration of development of experimental datasets and algorithm models, screening and preparation of the scaffolds and their applications in vivo. ABSTRACT Bone defects require materials with osteogenic, neurogenic, and angiogenic activity, yet designing such materials within high‐dimensional compositional spaces remains challenging. Here,
Kunlu Lin, Ying Yang, Chuyao Zhou, Hanyue Mao, Zhiquan Zhang, Libangxi Liu, Xiaoying Yu, Haoming Liu, Long Liu, Xiaoyan Wang   +9 more
wiley   +1 more source

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study

Molecular Genetics and Metabolism Reports, 2020
Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj   +1 more source

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source

Inborn errors of enzymes in glutamate metabolism [PDF]

, 2020
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Verhoeven-Duif, Nanda, Peter M. van Hasselt, Jans, Judith Jm, Lynne Rumping, Vringer, Esmee, Roderick H. J. Houwen, Nanda M. Verhoeven‐Duif, van Hasselt, Peter M, Judith J. M. Jans, Houwen, Roderick Hj, Esmee Vringer, Rumping, Lynne   +11 more
core   +1 more source

The BTB/POZ‐MATH Protein ZmBPM1 Interacts With Autophagy‐related Protein ZmATG6 and Modulates the NLR Protein Rp1‐D21‐Mediated Defense Response in Maize

Advanced Science, EarlyView.
The maize BTB/POZ‐MATH (BPM) protein ZmBPM1 interacts with autophagy‐related protein ZmATG6 to relocate the NLR protein Rp1‐D21 from the nucleo‐cytoplasmic compartment into autophagosome‐like puncta, leading to autophagy‐mediated turnover and suppressing the hypersensitive response.
Chang‐Xiao Tang, Tong‐Tong Liu, Qi‐Dong Ge, Xiao‐Ying Liu, Wanxiao Wang, Yang Sun, Yanfei Liu, Faqiang Li, Guan‐Feng Wang   +8 more
wiley   +1 more source

Case-control study about the acceptance of Pegvaliase in Phenylketonuria

Molecular Genetics and Metabolism Reports, 2020
Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj   +1 more source

Characterization and expression of domains of Alphaherpesvirus bovine 1/5 envelope glycoproteins B in Komagataella phaffi

BMC Veterinary Research, 2023
Background Bovine herpes virus (BoHV 1 and BoHV-5) are the causative agents of infectious bovine rhinotracheitis (IBR). IBR is responsible for important economic losses in the cattle industry.
Juan Sebastián Quintero Barbosa, Heidy Yohana Triana Rojas, Janneth Gonzalez, Angela Johana Espejo-Mojica, Carlos Javier Alméciga Díaz, María Fernanda Gutierrez   +5 more
doaj   +1 more source

Hepatic-Based Inborn Errors of Metabolism [PDF]

, 2015
Inborn errors of metabolism (IEMs) are a vast, diverse, and heterogeneous set of genetic disorders. Hepatic-based IEMs are a significant cause of morbidity and mortality, and represent a common indication for liver transplantation (LTx) in the ...
Tormod Lund
core  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source