Results 141 to 150 of about 41,053 (230)

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

Sci Rep, 2020
Mansour TA, Woolard KD, Vernau KL, Ancona DM, Thomasy SM, Sebbag L, Moore BA, Knipe MF, Seada HA, Cowan TM, Aguilar M, Titus Brown C, Bannasch DL.   +12 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease. [PDF]

J Biol Chem
Polovitskaya MM, Rana T, Ullrich K, Murko S, Bierhals T, Vogt G, Stauber T, Kubisch C, Santer R, Jentsch TJ.   +9 more
europepmc   +1 more source

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach. [PDF]

Int J Mol Sci, 2020
Coutinho MF, Santos JI, S Mendonça L, Matos L, Prata MJ, S Jurado A, Pedroso de Lima MC, Alves S.   +7 more
europepmc   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation

Annals of Neurology, EarlyView.
Objective Whether cognitive decline in patients with Parkinson's disease (PD) carrying GBA1 variants is accelerated after subthalamic deep brain stimulation (STN‐DBS) remains controversial. Clarifying long‐term cognitive outcomes is essential for informed decision making.
Moritz A. Loeffler, Philipp Klocke, Isabel Wurster, Stefanie Lerche, Idil Cebi, Thomas Gasser, Alireza Gharabaghi, Kathrin Brockmann, Daniel Weiss   +8 more
wiley   +1 more source

Mucin Glycoprotein Nanoparticles Enable a Selective Antisense Therapy for Oncogenic MicroRNAs

Advanced NanoBiomed Research, EarlyView.
Mucin glycoproteins are turned into nanoparticles by employing synthetic DNA strands, which have a dual function: they stabilize the nanoparticles and act as binding sites for intracellular miRNA‐21. Thus, upon internalization into tumor cells, these mucin nanoparticles can deplete miRNA‐21 from the cytosol, which induces apoptosis in vitro and in vivo.
Ceren Kimna, Thomas Mayer, Di Zhang, Matthias Marczynski, Carolin A. Rickert, Fabio Henkel, Lennart J. K. Weiss, Friedrich C. Simmel, Yuxia Luan, Oliver Lieleg   +9 more
wiley   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

Animal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem, Samy A. Elsaadawy, Zhaohai Wu, Lu Ma, Todd R. Callaway, Dengpan Bu   +5 more
wiley   +1 more source

Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models. [PDF]

JCI Insight
Ha HT, Liu S, Nguyen XT, Vo LK, Leong NC, Nguyen DT, Balamurugan S, Lim PY, Wu Y, Seong E, Nguyen TQ, Oh J, Wenk MR, Cazenave-Gassiot A, Yapici Z, Ong WY, Burmeister M, Nguyen LN.   +17 more
europepmc   +1 more source

Plasma Proteomics Identifies TAOK3 as a Potential Biomarker of Rheumatoid Arthritis Activity and a Novel Therapeutic Target

Arthritis &Rheumatology, Accepted Article.
Objective Bone destruction associated with active rheumatoid arthritis (RA) remains a major therapeutic challenge, with a lack of reliable molecular markers reflecting bone injury. This study aims to identify novel biomarkers linked to bone destruction in active RA through proteomic analysis, providing new strategies for precise monitoring and targeted
Pengfei Xin, Wenzhen Li, Xinyu A, Jun Shen, Xiaohui Meng, Yanqin Bian, Haihui Han, Zheng Xiang, Lei Ran, Songtao Sun, Jun Xie, Tao Yue, Qi Zhu, Xiaoming Zhang, Lu Xie, Lianbo Xiao   +15 more
wiley   +1 more source