Alesi, Viola Sessini, Francesca Genovese, Silvia Calvieri, Giusy Sallicandro, Ester Ciocca, Laura Mingoia, Maura Novelli, Antonio Moi, Paolo
Published in
International journal of molecular sciences
Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism, and dysmorphic features. It is inherited in an autosomal recessive manner, and it is a result of homozygous or compound heterozygous variants in the ECEL1 gene. Here, we report two patients of ...
Tardelli, Matteo Bruschi, Francesca V Fuchs, Claudia D Claudel, Thierry Auer, Nicole Kunczer, Victoria Ronda, Onne A H O Verkade, Henkjan J Stojakovic, Tatjana Scharnagl, Hubert
...
Published in
International journal of molecular sciences
Altered lipid metabolic pathways including hydrolysis of triglycerides are key players in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). Whether adiponutrin (patatin-like phospholipase domain containing protein-3-PNPLA3) and monoacylglycerol lipase (MGL) synergistically contribute to disease progression remains unclear. We generated ...
Robles, Pedro Quesada, Víctor
Published in
International journal of molecular sciences
Eleven published articles (4 reviews, 7 research papers) are collected in the Special Issue entitled "Organelle Genetics in Plants." This selection of papers covers a wide range of topics related to chloroplasts and plant mitochondria research: (i) organellar gene expression (OGE) and, more specifically, chloroplast RNA editing in soybean, mitochon...
Jun, Ji Hye Park, Soo Young Park, Sohae Park, Hee Jung Kim, Jae Yeon Park, Gyu Tae Bae, Si Hyun Kim, Jae Ho Kim, Gi Jin
Published in
International journal of molecular sciences
Hexapeptide WKYMVm (Trp-Lys-Tyr-Met-Val-D-Met), a ligand of formyl peptide receptor 2, exhibits anti-inflammatory and angiogenic properties in disease models. However, the therapeutic effects of WKYMVm on hepatic fibrosis have not been evaluated to date. Therefore, we investigated whether WKYMVm exerts antifibrotic effects and induces vascular rege...
Akita, Sadanori Suzuki, Keiji Yoshimoto, Hiroshi Ohtsuru, Akira Hirano, Akiyoshi Yamashita, Shunichi
Published in
International journal of molecular sciences
Lipodystrophy is a common complication in human immunodeficiency virus (HIV)-infected patients receiving highly active antiretroviral therapy (HAART) or antiretroviral therapy (ART). Previous studies demonstrated that endoplasmic reticulum (ER) stress-mediated unfolded protein response (UPR) is involved in lipodystrophy; however, the detailed mecha...
Wen, Yao-Tseng Ho, Yu-Chieh Lee, Yueh-Chang Ding, Dah-Ching Liu, Pei-Kang Tsai, Rong-Kung
Published in
International journal of molecular sciences
Mesenchymal stem cell (MSC) therapy has been investigated intensively for many years. However, there is a potential risk related to MSC applications in various cell niches. The safety of intravitreal MSC application and the efficacy of MSC-derived conditioned medium (MDCM) were evaluated in the normal eye and the diseased eye, respectively. For saf...
He, Ling
Published in
International journal of molecular sciences
A high-fat, Western-style diet is an important predisposing factor for the onset of type 2 diabetes and obesity. It causes changes in gut microbial profile, reduction of microbial diversity, and the impairment of the intestinal barrier, leading to increased serum lipopolysaccharide (endotoxin) levels. Elevated lipopolysaccharide (LPS) induces acety...
Chen, Wan-Jing Lin, I-Hsuan Lee, Chien-Wei Chen, Yi-Fan
Published in
International journal of molecular sciences
Aging causes a decline in skeletal muscle function, resulting in a progressive loss of muscle mass, quality, and strength. A weak regenerative capacity is one of the critical causes of dysfunctional skeletal muscle in elderly individuals. The extracellular matrix (ECM) maintains the tissue framework structure in skeletal muscle. As shown by previou...
Rinonapoli, Giuseppe Ruggiero, Carmelinda Meccariello, Luigi Bisaccia, Michele Ceccarini, Paolo Caraffa, Auro
Published in
International journal of molecular sciences
Osteoporosis is called the 'silent disease' because, although it does not give significant symptoms when it is not complicated, can cause fragility fractures, with serious consequences and death. Furthermore, the consequences of osteoporosis have been calculated to weigh heavily on the costs of health systems in all the countries. Osteoporosis is c...
Ben Saad, Amel Bruneau, Alix Mareux, Elodie Lapalus, Martine Delaunay, Jean-Louis Gonzales, Emmanuel Jacquemin, Emmanuel Aït-Slimane, Tounsia Falguières, Thomas
Published in
International journal of molecular sciences
The ATP-binding cassette (ABC) transporters expressed at the canalicular membrane of hepatocytes mediate the secretion of several compounds into the bile canaliculi and therefore play a key role in bile secretion. Among these transporters, ABCB11 secretes bile acids, ABCB4 translocates phosphatidylcholine and ABCG5/G8 is responsible for cholesterol...