Results 51 to 60 of about 286,443 (160)

Metabolic Shifts Precede Cognitive Decline in the Male hAß‐KI Alzheimer's Mouse Model

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
A major barrier in Alzheimer's disease (AD) research is the lack of animals that recapitulate sporadic AD. The humanized amyloid‐beta knock‐in mice (hAß‐KI) exhibit age‐dependent cognitive decline and beta‐amyloid accumulation. However, limited research has been conducted related to AD risk factors and sex‐specific responses.
Evelin Melekh, Emma L. Cook, Julia G. Stante, Amélie A. T. Marais, Ahmad Mohammad, Shawn M. Beaudette, Wendy E. Ward, Val A. Fajardo, Rebecca E. K. MacPherson   +8 more
wiley   +1 more source

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship

, 2016
Background-Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease.
Mosquera, D., Sánchez Hernández, Rosa María, Almagro Múgica, Fátima, Mosquera, Daniel, Brito Casillas, Yeray, Blanco Vaca, Francisco, Stef, M., Saenz-Aranzubia, Pedro, Pocovi, M., Mosquera Lozano, Daniel, Civeira, Fernando, Plana Gil, Nuria, Brito-Casillas, Y., Civeira Murillo, Fernando, Fuentes, Francisco J., Sánchez-Hernández, R. M., Ascaso Gimilio, Juan Francisco, Soler i Ferrer, Cristina, Real, J. T., Novoa, Francisco J., Almagro, F., Stef, Marianne A., Perez-Calahorra, Sofia, Civeira, F., Novoa Mogollón, Francisco, Perez-Calahorra, S., Blanco-Vaca, F., Fuentes Jiménez, Francisco José, Real, Jose T., Ascaso, J. F., Sáenz-Aranzubía, P., Plana, Nuria, Brito-Casillas, Yeray, Pérez Calahorra, Sofía, Soler, Cristina, Sanchez-Hernandez, Rosa M., Blanco-Vaca, Francisco, Plana, N., Fuentes, F. J., Sáenz Aranzubía, Pedro Enrique, Pocovi Mieras, Miguel, Real Collado, José Tomás, Soler, C., Stef, Marianne, Pocovi, Miguel, Almagro, Fatima, Ascaso, Juan F., Novoa, F. J.   +47 more
core   +2 more sources

AN INTERESTING CASE OF FAMILIAL HOMOZYGOUS HYPERCHOLESTEROLEMIA , SFH RIYADH KSA.

, 2017
Familial hypercholesterolemia is an inherited condition that cause high level of LDL and cholesterol levels beginning birth . Familial hypercholesterolemia is run in families in an autosomal manner .
Amjaad AlMarjan, Amjaad Al Marjan, Fawwaz Al Mutairi., Fawwaz AlMutairi.   +3 more
core   +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, Volume 15, Issue 36, 25 September 2026.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
Global Mroh1 deficiency in male mice is associated with reduced circulating thyroid hormone level, late‐onset thyroid follicular remodelling, and lower whole‐thyroid abundance of Nkx2‐1, Foxe1, and Tg transcripts. These findings support a role for MROH1 in maintaining thyroid homeostasis and structural integrity.
Nami Ohuchi, Yoshinori Osaki, Yoshimi Nakagawa, Takafumi Miyamoto, Masaya Araki, Yuhei Mizunoe, Takaaki Matsuda, Yuki Murayama, Yoko Sugano, Hitoshi Iwasaki, Takashi Matsuzaka, Motohiro Sekiya, Hitoshi Shimano   +12 more
wiley   +1 more source

Mecanismos moleculares que relacionam a hipercolesterolemia familiar à doença de Alzheimer [PDF]

, 2015
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Bioquímica, Florianópolis, 2015.A hipercolesterolemia familiar é uma doença do metabolismo das lipoproteínas causada por anormalidades ...
Oliveira, Jade de
core  

Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide

, 2020
Lomitapide (Juxtapid® in US and Lojuxta® in Europe) is the first developed inhibitor of the microsomal triglyceride transfer protein (MTP) approved as a novel drug for the management of homozygous familial hypercholesterolemia (HoFH).
Noto, Davide, Averna, Maurizio, Giammanco, Antonina, Cefalù, Angelo B   +3 more
core   +1 more source

Early‐onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease

Clinical Case Reports
Key Clinical Message Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease.
Harsimran Kalsi, Ankur Singla, Sukhjot Kaur, Amogh Verma, Nathnael Abera Woldehana, Sarvesh Rustagi, Mahendra Pratap Singh   +6 more
doaj   +1 more source

GalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy

Nature Communications, 2023
Lipid nanoparticles have demonstrated utility in hepatic delivery of a range of therapeutic modalities and typically deliver their cargo via low-density lipoprotein receptor-mediated endocytosis.
Lisa N. Kasiewicz, Souvik Biswas, Aaron Beach, Huilan Ren, Chaitali Dutta, Anne Marie Mazzola, Ellen Rohde, Alexandra Chadwick, Christopher Cheng, Sara P. Garcia, Sowmya Iyer, Yuri Matsumoto, Amit V. Khera, Kiran Musunuru, Sekar Kathiresan, Padma Malyala, Kallanthottathil G. Rajeev, Andrew M. Bellinger   +17 more
doaj   +1 more source

Genome Editing for Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Gene therapy has been developed for several glycogen storage diseases and has advanced into clinical trials. However, the limitations of these gene therapies with regard to stability following treatment early in life have led to the development of genome editing.
Troy von Beck, Raymond Wang, Dwight Koeberl   +2 more
wiley   +1 more source