Article
Cell & Tissue Engineering
Abhay Srivastava, Rishma Jaryal, Cheryl Rockman-Greenberg, Sanjiv Dhingra
Summary: A new induced pluripotent stem cell line has been created for the study of hypophosphatasia, which can be used to explore disease mechanisms, screen new drugs, and design cell therapy studies.
STEM CELL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Maria del Carmen Ortuno-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Ines Garcia-Consuegra, Camille Laberthonniere, Megane Delourme, Rafael Garesse, Joaquin Arenas, Carla Fuster Garcia, Gema Garcia Garcia, Jose Maria Millan, Frederique Magdinier, Maria Esther Gallardo
Summary: This article describes the establishment of the first human iPSC-based model for McArdle disease and the testing of two breakthrough compounds for potential treatment. The developed model will serve as a platform for studying the pharmacological activity of drugs or compounds against this disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell & Tissue Engineering
Pei-Yin Su, Winston Lee, Jana Zernant, Stephen H. Tsang, Takayuki Nagasaki, Barbara Corneo, Rando Allikmets
Summary: This study established an induced pluripotent stem cell line for research on Stargardt disease. The stem cell line was derived from a patient with mild disease features who carries two variations in the ABCA4 gene. The study confirmed the pluripotency and stemness markers of the stem cell line and its ability for trilineage differentiation.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Jaewon Oh, Sun-Ho Lee, Jungyoon Choi, Jong Rak Choi, Sangwoo Kim, Yun-Ji Cha, Hyo-Kyoung Choi, Dongju Won, Ho-Geun Yoon, Sahng Wook Park, Seok-Min Kang, Seung-Tae Lee, Seung-Hyun Lee
Summary: Cardiac laminopathy caused by mutations in the LMNA gene is common, highly penetrant, and has a poor prognosis. A novel human induced pluripotent stem cell (iPSC) line YCMi003-A was generated from a patient with dilated cardiomyopathy associated with the genetic variant LMNA c.1090G > C; p.Asp364His. This iPSC line could serve as a valuable tool for in vitro modeling of cardiac laminopathy.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Lingyuan Min, Yongtian Yin, Qingyang Zhao, Shiyuan Wang
Summary: This study characterizes an induced pluripotent stem cell line derived from a healthy female, which is important as a control in genetic disease studies.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
N. M. Daya, L. Mavrommatis, H. Zhuge, M. Athamneh, A. Roos, D. Glaeser, K. Doering, H. Zaehres, M. Vorgerd, A. K. Guettsches
Summary: This study introduces a human induced pluripotent stem cell (hiPSC) line generated from cultured dermal fibroblasts of a male patient with myofibrillar myopathy. The cell line carries a mutation in the filamin C (FLNC) gene and displays typical embryonic stem cell-like morphology and pluripotent stem cell markers expression. It has the potential to differentiate into all three germ layers.
STEM CELL RESEARCH
(2023)
Article
Cell & Tissue Engineering
Yue Li, Rui Dong, Guangyu Wang, Haiyan Zhang, Xiaomeng Yang, Zilong Li, Jingyun Guan, Zhongtao Gai, Yi Liu
Summary: A line of induced pluripotent stem cells (iPSCs) was generated from peripheral blood mononuclear cells (PBMCs) of a girl with PHOAR1, confirming the presence of pluripotency markers and differentiation potential.
STEM CELL RESEARCH
(2021)
Article
Obstetrics & Gynecology
Daryeon Son, Hahyun Park, Garam An, Sunwoo Park, Dong Won Hwang, Soo Jin Park, Hee Seung Kim, Whasun Lim, Seungkwon You, Gwonhwa Song
Summary: Endometriosis is an inflammatory disease characterized by the growth of endometrial-like tissues outside the uterus, and progesterone insufficiency contributes to its progression and systemic inflammation. Patients with endometriosis often experience painful symptoms and infertility, significantly affecting their quality of life.
REPRODUCTIVE SCIENCES
(2023)
Article
Cell & Tissue Engineering
Mark-Christian Jaboreck, Jonathan Lukas Luehmann, Mia Mielenz, Frauke Stanke, Gudrun Goehring, Ulrich Martin, Ruth Olmer, Sylvia Merkert
Summary: In this study, knockout cell lines lacking the TMEM16A gene were generated using CRISPR/Cas9 technology in both healthy human induced pluripotent stem cells (iPSCs) and cystic fibrosis patient iPSCs. These cell lines can provide insights into the role of TMEM16A in mucus secretion and production, as well as evaluating its therapeutic potential.
STEM CELL RESEARCH
(2022)
Article
Nutrition & Dietetics
Nicoline Lokken, Nicol C. C. Voermans, Linda K. Andersen, Walaa Karazi, Stacey L. L. Reason, Heidi Zweers, Gustav Wilms, Alfredo Santalla, Edward Susanibar, Alejandro Lucia, John Vissing
Summary: The low-carbohydrate ketogenic diet (LCKD) has been increasingly used as a potential treatment option for individuals with McArdle disease. This study aimed to collect patient-reported experiences with a LCKD and found that one-third of the McArdle disease cohort had tried a LCKD. The majority of individuals reported positive effects on core symptoms, while adverse effects were rare and mild to moderate.
Article
Cell & Tissue Engineering
Ewelina Latoszek, Marta Piechota, Ewa Liszewska, Hana Hansikova, Jiri Klempir, Alzbeta Muhlback, Georg Bernhard Landwehrmeyer, Jacek Kuznicki, Magdalena Czeredys
Summary: Researchers generated hiPSC lines from dermal fibroblasts of patients with Huntington's disease, which can differentiate into three-germ layers in vitro, serving as an important tool for studying the disease.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Hui Lin, Shi-Qiao Ye, Zhao-Hui Xu, Jacqueline S. Penaloza, Mona Aljuhani, Tatyana Vetter, Ming -Tao Zhao, Kim L. McBride
Summary: Epstein-Barr virus (EBV) immortalized lymphoblastoid cell lines (LCLs) have been used to generate EBV-free and transgene-free human iPSC lines, which exhibit stem cell-like characteristics and pluripotency for disease modeling, drug discovery, and cell therapy development.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Markus C. Doeser, Julia Krygin, Albrecht Roepke, Dong Han, Roland Wedlich-Soeldner, Hans R. Schoeler, Hermann Pavenstadt, Kee-Pyo Kim
Summary: An induced pluripotent stem cell line was generated from fibroblasts of a patient with Denys-Drash syndrome, expressing pluripotent stem cell markers and showing potential for differentiation into derivatives of all three germ layers.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Lingfei Li, Xiaoli Si, Jiayin Yang, Meng Lei, Huifang Liu, Jie Ruan, Hanting Fu, Wenxuan Li, Hui Yang, Xiaoguang Lei, Hongfei Sang
Summary: Leucine-rich repeat kinase 2 (LRRK2), encoded by the PARK8 gene, is a protein kinase mainly present in the cytoplasm and the mitochondrial outer membrane. Mutations in LRRK2 protein cause Parkinson's disease (PD). We successfully generated a human induced pluripotent stem cell (iPSC) line (CIBi014-A) expressing pluripotency markers, which exhibited a normal karyotype and could differentiate into three germ layers in vitro. This cell line will be valuable for investigating the mechanism underlying PD and identifying potential therapeutic targets.
STEM CELL RESEARCH
(2023)
Article
Cell & Tissue Engineering
Danni Wang, Jiajia Lin, Ming Jin, Ning Wang
Summary: A human iPSC line was generated from PBMCs of a patient with duplications in the dystrophin gene, and tests including karyotype analysis and teratoma formation were conducted, indicating its usefulness for further research on genetic treatment or new therapeutic drugs.
STEM CELL RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Ines Garcia-Consuegra, Sara Asensio-Pena, Rocio Garrido-Moraga, Tomas Pinos, Cristina Dominguez-Gonzalez, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquin Arenas, Jose L. Zugaza, Alejandro Lucia, Miguel A. Martin
Summary: Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). This study identified potential muscle protein biomarkers associated with muscle dysfunction in GSDV patients by analyzing the muscle proteome and molecular networks. These protein biomarkers, predominantly involved in muscle contraction and calcium homeostasis, could be indicative of the persistent muscle damage in GSDV patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Cristina Dominguez-Gonzalez, Roberto Fernandez-Torron, Ursula Moore, Carlos Pablo de Fuenmayor-Fernandez de la Hoz, Beatriz Velez-Gomez, Juan Antonio Cabezas, Jorge Alonso-Perez, Laura Gonzalez-Mera, Montse Olive, Jorge Garcia-Garcia, German Moris, Juan Carlos Leon Hernandez, Nuria Muelas, Emilia Servian-Morilla, Miguel A. Martin, Jordi Diaz-Manera, Carmen Paradas
Summary: This study aims to evaluate the diagnostic value of lower limb muscle MRI in adult patients with TK2 deficiency (TK2d). By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, researchers have identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.
JOURNAL OF NEUROLOGY
(2022)
Article
Sport Sciences
Alfredo Santalla, Pedro L. Valenzuela, Carlos Rodriguez-Lopez, Irene Rodriguez-Gomez, Gisela Nogales-Gadea, Tomas Pinos, Joaquin Arenas, Miguel A. Martin, Alejandro Santos-Lozano, MARiA Moran, Carmen Fiuza-Luces, Ignacio Ara, Alejandro Lucia
Summary: This study aimed to investigate the effects of a long-term exercise intervention on patients with McArdle disease. The results showed that a 2-year unsupervised exercise program was both safe and effective in improving the clinical course and aerobic fitness of these patients.
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2022)
Article
Clinical Neurology
Herminia Argente-Escrig, Juan J. Vilchez, Marina Frasquet, Nuria Muelas, Inmaculada Azorin, Roger Vilchez, Elvira Millet-Sancho, Inmaculada Pitarch, Miguel Tomas-Vila, Juan F. Vazquez-Costa, Fernando Mas-Estelles, Clara Marco-Marin, Carmen Espinos, Pablo Serrano-Lorenzo, Miguel A. Martin, Vincenzo Lupo, Teresa Sevilla
Summary: Three patients with infantile-onset demyelinating neuropathy showed intellectual disability, cerebellar abnormalities, and severe demyelinating neuropathy, all carrying compound heterozygous variants of the TRMT5 gene.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Sara Laine-Menendez, Miguel Fernandez-de la Torre, Carmen Fiuza-Luces, Aitor Delmiro, Joaquin Arenas, Miguel Angel Martin, Patricia Boya, Alejandro Lucia, Maria Moran
Summary: In this study, we investigated the effects of apoptosis-inducing factor (AIF) deficiency and exercise training on autophagy in tissues primarily affected by mitochondrial diseases using a preclinical mouse model. Our results showed that AIF deficiency led to accumulation of autophagy markers and free amino acids in the heart and skeletal muscle, but decreased levels of autophagy-related proteins in the cerebellum and brain. Exercise training did not reverse these autophagy abnormalities.
Article
Biochemistry & Molecular Biology
Nuria Bujan, Constanza Moren, Francesc J. Garcia-Garcia, Alberto Blazquez, Clara Carnicer, Ana Belen Cortes, Cristina Gonzalez, Ester Lopez-Gallardo, Ester Lozano, Sonia Moliner, Laura Gort, Ester Tobias, Aitor Delmiro, Miguel Angel Martin, Miguel Angel Fernandez-Moreno, Eduardo Ruiz-Pesini, Elena Garcia-Arumi, Juan Carlos Rodriguez-Aguilera, Gloria Garrabou
Summary: The quantification of mitochondrial respiratory chain (MRC) enzymatic activities is crucial for diagnosing mitochondrial diseases. However, the high variability in measuring MRC enzymatic activities and the methodological challenges have hindered comparative analysis. To address this issue, seven Spanish centers collaborated to standardize spectrophotometric MRC enzymatic measurements using minimum sample amounts.
Letter
Clinical Neurology
Laura Bermejo-Guerrero, Ana Arteche-Lopez, Carlos de Fuenmayor Fernandez de la Hoz, Aurelio Hernandez-Lain, Miguel A. Martin, Cristina Dominguez-Gonzalez
Article
Clinical Neurology
Nicoline Lokken, Karoline Lolk Revsbech, Laura Norager Jacobsen, Andrea Martinuzzi, Miguel Angel Martin, Jordi Diaz-Manera, Cristina Dominguez-Gonzalez, Giovanni Brondani, Olimpia Musumeci, Francesca Granata, Cristina Stefan, Concepcion Merino-Sanchez, Claudia Nunez Peralta, Tahmina Khawajazada, Jorge Alonso-Perez, Antonio Toscano, John Vissing
Summary: The study found that patients with GSDV exhibit severe fat replacement in paraspinal and shoulder muscles, indicating potential implications for future management of GSDV patients. The clinical relevance of discrete increases in lower limb fat fractions remains uncertain, with age-related changes observed in both patient groups. Accelerated muscle damage may contribute to higher fat replacement in GSDV patients.
Article
Clinical Neurology
Cristina Dominguez-Gonzalez, Ana Hernandez-Voth, Carlos Pablo De Fuenmayor-Fernandez De la Hoz, Laura Bermejo Guerrero, German Moris, Jorge Garcia-Garcia, Nuria Muelas, Juan Carlos Leon Hernandez, Maria Rabasa, David Lora, Alberto Blazquez, Joaquin Arenas, Miguel Angel Martin
Summary: This historical cohort study evaluated the clinical characteristics, progression, and prognosis of adults with thymidine kinase 2 deficiency (TK2d). The study found that respiratory muscles deteriorate rapidly in TK2d adults, independent of motor impairment. Prognostic indicators include forced vital capacity (FVC) at diagnosis, mitochondrial DNA levels in muscle, and age at disease onset.
NEUROMUSCULAR DISORDERS
(2022)
Article
Clinical Neurology
Maria Paz Guerrero-Molina, Montserrat Morales-Conejo, Aitor Delmiro, Maria Moran, Cristina Dominguez-Gonzalez, Elena Arranz-Canales, Ana Ramos-Gonzalez, Joaquin Arenas, Miguel A. Martin, Jesus Gonzalez de la Aleja
Summary: This study found that high-dose oral glutamine supplementation significantly reduces CSF glutamate and increases CSF glutamine levels in patients with MELAS syndrome. These findings may have potential therapeutic implications in these patients.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Maria del Carmen Ortuno-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Ines Garcia-Consuegra, Camille Laberthonniere, Megane Delourme, Rafael Garesse, Joaquin Arenas, Carla Fuster Garcia, Gema Garcia Garcia, Jose Maria Millan, Frederique Magdinier, Maria Esther Gallardo
Summary: This article describes the establishment of the first human iPSC-based model for McArdle disease and the testing of two breakthrough compounds for potential treatment. The developed model will serve as a platform for studying the pharmacological activity of drugs or compounds against this disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Chemistry, Physical
Marianela Ravelo, M. Esther Gallardo, Miguel Ladero, Felix Garcia-Ochoa
Summary: This work focuses on the enzymatic esterification of glycerol and ibuprofen in triphasic systems. The presence of water in the polar phase significantly increases the productivity. The best kinetic model for the anhydrous reaction system is a reversible hyperbolic model.
Article
Multidisciplinary Sciences
Pablo Serrano-Lorenzo, Dino Gobelli, Rocio Garrido-Moraga, Maria J. Esteban-Amo, Jose R. Lopez-Lopez, Antonio Orduna, Miguel A. de la Fuente, Miguel A. Martin, Maria Simarro
Summary: Increasing evidence shows that the electron transfer chain is crucial in controlling macrophages' effector functions. This study generated Ndufs4-/- mouse macrophage cell lines, which exhibit decreased complex I activity, altered complex I assembly, and reduced levels of maximal respiration and ATP production. These mitochondrial respiration alterations are associated with a pro-inflammatory cytokine profile response and enhanced phagocytosis of Gram-negative bacteria.
Article
Biochemistry & Molecular Biology
Victoria Cerrada, Ines Garcia-Consuegra, Joaquin Arenas, M. Esther Gallardo
Summary: McArdle disease is a rare condition caused by mutations in the PYGM gene, resulting in an inability to obtain energy from muscle glycogen and exercise intolerance. This study created a human iPSC-based skeletal muscle model of McArdle disease, which can be used for future pharmacological screenings.
