Article
Cell & Tissue Engineering
SiJun Li, Chufeng He, Qi Feng, YiJiang Bai, Xianlin Liu, Jie Ling, Lingyun Mei, XueWen Wu, Yong Feng, Jian Song
Summary: The study utilized induced pluripotent stem cells (iPSC) to describe the early stages of hearing loss and uncover the phenotypic manifestations of mutations in the SLC26A4 gene. The donors, a couple, had heterozygous mutations in the SLC26A4 gene in their peripheral blood mononuclear cells (PBMCs), which resulted in their children developing Enlarged vestibular aqueduct (EVA).
STEM CELL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Ana Rafaela Oliveira, Solange Martins, Giuseppe Cammarata, Mariana Martins, Ana Maria Cardoso, Maria Rosario Almeida, Maria do Carmo Macario, Isabel Santana, Joao Peca, Ana Luisa Cardoso
Summary: This study generated and characterized three hiPSC lines carrying GRN mutations from a Portuguese family. These cell lines serve as suitable tools for studying the pathophysiology of GRN mutations.
Article
Cell & Tissue Engineering
Sangkyun Cho, Chelsea Lee, Celine Lai, Yan Zhuge, Francois Haddad, Michael Fowler, Karim Sallam, Joseph C. Wu
Summary: In this study, three iPSC lines were generated from PBMCs of DCM patients carrying the same LMNA gene mutation. These iPSC lines exhibited normal morphology, expressed pluripotency markers, and could differentiate into the three germ layers. These patient-specific iPSC lines can be used as valuable tools to model the pathological mechanisms of LMNA-DCM in vitro.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Lichao Liu, Sushma P. Shenoy, James W. S. Jahng, Yu Liu, Joshua W. Knowles, Yan Zhuge, Joseph C. Wu
Summary: This study successfully generated two human iPSC lines from a patient with HCM and his daughter carrying a pathogenic non-coding mutation, providing a valuable resource for studying the molecular basis of HCM and drug screening for HCM. The lines exhibit typical pluripotent cell morphology, high expression of pluripotency markers, normal karyotype, and the ability to differentiate into all three germ layers in vitro.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
S. A. Chechetkina, A. A. Khabarova, A. S. Chvileva, O. M. Kurchenko, A. V. Smirnov, A. M. Yunusova, I. N. Kotov, E. V. Musatova, E. A. Pomerantseva, E. A. Volovikov, M. A. Lagarkova, T. A. Shnaider, I. E. Pristyazhnyuk
Summary: By using induced pluripotent stem cell (iPSC) lines, iCS-MAF1-1 and iCS-MAF1-11, researchers aim to describe the early stages of neurogenesis and identify key developmental stages where phenotypic manifestations of mutations in the VPS13B gene are found.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Julio Castano, Damia Romero-Moya, Yvonne Richaud-Patin, Alessandra Giorgetti
Summary: The study successfully generated high-quality human induced pluripotent stem cell lines carrying two common GATA2 gene mutations using CRISPR/Cas9, providing an in vitro model for studying the molecular and cellular mechanisms underlying GATA2 deficiency.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Wener Li, Sarah Henze, Xiaojing Luo, Ying Ulbricht, Anja Richter, Nataliya Di Donato, Arthur A. M. Wilde, Kaomei Guan
Summary: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused mainly by mutations in the RYR2 gene. In this study, two induced pluripotent stem cell lines were successfully generated from a CPVT patient, providing a valuable tool for disease modeling and research.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Masuma Akter, Haochen Cui, Yi-Hsien Chen, Baojin Ding
Summary: Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder caused by GAG deletion in the TOR1A gene. This study generated isogenic control lines using hiPSC technology, providing a valuable resource for DYT1 research.
STEM CELL RESEARCH
(2022)
Article
Cell & Tissue Engineering
Liani G. Devito, Zeinab Shadman Zanjani, James R. Evans, Annarita Scardamaglia, Henry Houlden, Sonia Gandhi, Lyn Healy
Summary: Mutations or multiplications of the SNCA gene can cause rare autosomal dominant Parkinson's disease. The SNCA G51D missense mutation is associated with synucleinopathy similar to Parkinson's disease and multiple system atrophy. Induced pluripotent stem cell (iPSC) lines generated from individuals with SNCA G51D missense mutations showed normal morphology, expressed pluripotency markers, and differentiated into three germ layers. These iPSC lines can facilitate disease modeling and therapy development for synucleinopathies.
STEM CELL RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
George Kyriakopoulos, Vicky Katopodi, Ilias Skeparnias, Eleni G. Kaliatsi, Katerina Grafanaki, Constantinos Stathopoulos
Summary: The study reveals that the KRAS(G12C) signaling pathway has differential effects on the translational machinery in CL1-5 cells and A549 cells, leading to changes in translation rates and cap-dependent translation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell & Tissue Engineering
Ping Xu, Fuying Guo, Bingbing Xie, Xiufeng Zhong
Summary: PROM1-related retinal dystrophy is a hereditary retinal disorder that causes progressive damage to the photoreceptors. By studying induced pluripotent stem cell lines from a patient with PROM1-related retinal dystrophy and his healthy mother, we can gain insights into the disease mechanisms and potentially develop treatments.
STEM CELL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Catalina Anca Cucos, Elena Milanesi, Maria Dobre, Ioana Andreea Musat, Gina Manda, Antonio Cuadrado
Summary: This study aimed to identify inflammatory and redox dysregulations in the context of AD-specific neuronal cell death and DNA damage using the APP(V717I)xTAU(P301L) (AT) mouse model. By evaluating gene expression in the hippocampus and blood of AT mice, potential candidate biomarkers for preclinical drug development were identified. These findings may be valuable in translating research results into clinical trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell & Tissue Engineering
Maryam Alowaysi, Veronica Astro, Elisabetta Fiacco, Fatema Alzahrani, Fowzan S. Alkuraya, Antonio Adamo
Summary: GLP1R is a protein expressed in multiple human tissues, with GLP1R agonists commonly used as antidiabetic drugs and also showing potential neuroprotective function. iPSC lines derived from a patient with a GLP1R variant can be used as a model to study the molecular pathology of GLP1R dysfunction.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Jinia Lilianty, John F. Bateman, Shireen R. Lamande
Summary: By using CRISPR-Cas9 gene editing, a patient mutation was introduced into an established human induced pluripotent stem cell line for the study of Hypochondrogenesis disease modeling and drug testing.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Masuma Akter, Haochen Cui, Md Abir Hosain, Baojin Ding
Summary: We generated two induced pluripotent stem cell lines with the R521G mutation in the FUS gene, which is associated with ALS, by genetically modifying a healthy hiPSC line. Both lines exhibit normal stem cell characteristics and can differentiate into different germ layers, providing a valuable resource for studying the pathological mechanisms of the R521G mutation in ALS.
STEM CELL RESEARCH
(2023)
Review
Neurosciences
Henriette Haukedal, Kristine K. Freude
Summary: Alzheimer's disease is the most common cause of dementia, characterized by amyloid beta plaques and neurofibrillary tangles linked to glycosylation; altered glycosylation is suggested to be associated with disease pathology, serving as potential biomarkers and therapeutic targets for early diagnosis and treatment.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Claudia Salcedo, Antonie Wagner, Jens V. Andersen, Kasper Tore Vinten, Helle S. Waagepetersen, Arne Schousboe, Kristine K. Freude, Blanca I. Aldana
Summary: This study investigated astrocytic GABA metabolism in Alzheimer's disease pathology using human induced pluripotent stem cell-derived astrocytes. The results showed alterations in GABA uptake and metabolism in AD astrocytes linked to reduced GABA transporter expression, contributing further to neurotransmitter disturbances.
NEUROCHEMICAL RESEARCH
(2021)
Review
Clinical Neurology
Mariana Y. Garcia-Bermudez, Kristine K. Freude, Zaynab A. Mouhammad, Peter van Wijngaarden, Keith K. Martin, Miriam Kolko
Summary: Glaucoma is the second leading cause of blindness worldwide, affecting around 80 million people by 2020. Despite lowering intraocular pressure being the only proven treatment to slow disease progression, a significant number of patients still go blind. Therefore, the search for alternative treatment strategies is crucial.
FRONTIERS IN NEUROLOGY
(2021)
Article
Cell Biology
Elin Byman, Isak Martinsson, Henriette Haukedal, Gunnar Gouras, Kristine K. Freude, Malin Wennstrom
Summary: Recent studies suggest that neuronal alpha-amylase plays a crucial role in memory formation by degrading glycogen. Alpha-amylase deficiency in Alzheimer's disease patients may contribute to disrupted memory formation. The loss of alpha-amylase, induced by Aβ pathology, may be an underlying factor in impaired memory formation seen in AD patients.
Article
Cell Biology
Anna Luna Molgaard Tams, Berta Sanz-Morello, Emil Winther Westi, Zaynab Ahmad Mouhammad, Jens Velde Andersen, Kristine Karla Freude, Rupali Vohra, Jens Hannibal, Blanca Irene Aldana, Miriam Kolko
Summary: Visual changes are among the earliest symptoms observed in patients with Alzheimer's disease (AD). Research has shown that there are pathophysiological processes occurring in the retina of AD patients and animal models, including amyloid-beta plaque formation, vascular changes, neuroinflammation, and loss of retinal ganglion cells. Studies on the 5xFAD mouse model have revealed that there may be metabolic alterations in the retina of AD, which could impact the activity and survival of retinal ganglion cells.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2022)
Editorial Material
Geriatrics & Gerontology
Kristine K. Freude, Ines Moreno-Gonzalez, Carlos J. Rodriguez-Ortiz, David Baglietto-Vargas
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Ophthalmology
Anne Hedengran, Josefine Clement Freiberg, Pernille May Hansen, Jette Jacobsen, Susan Weng Larsen, Stine Harloff-Helleberg, Kristine Freude, Gerard Boix-Lemonche, Goran Petrovski, Steffen Heegaard, Miriam Kolko
Summary: BAK-preserved travoprost caused GC loss, indicating that PQ preservation may be preferable for glaucoma treatment. Furthermore, the physicochemical properties of branded and generic travoprost eye drops cannot be assumed to be identical.
ACTA OPHTHALMOLOGICA
(2022)
Review
Cell Biology
Sissel Ida Schmidt, Morten Blaabjerg, Kristine Freude, Morten Meyer
Summary: RhoA, a small GTPase involved in multiple signal transduction pathways, plays a crucial role in neurodegenerative diseases. Understanding the regulation of RhoA and its downstream cellular functions is important for elucidating the mechanisms of neurodegenerative diseases and exploring potential therapeutic interventions.
Article
Cardiac & Cardiovascular Systems
Kirstine Calloe, Michelle Geryk, Kristine Freude, Jacqueline A. Treat, Victoria A. Vold, Henriette Reventlow S. Frederiksen, Anders Krogh Broendberg, Tanja Charlotte Frederiksen, Henrik K. Jensen, Jonathan M. Cordeiro
Summary: This study identified that the G213D variant in the SCN5A gene results in abnormal function of Na(v)1.5, causing gating pore currents and increased window currents, leading to abnormal cardiac cell activity. Treatment with flecainide can reduce window currents and inhibit I-Na, effectively treating patients with MEPPC-like syndrome.
Article
Multidisciplinary Sciences
Naveen Kumar Chandappa Gowda, Bharti Nawalpuri, Sarayu Ramakrishna, Vishwaja Jhaveri, Ravi S. Muddashetty
Summary: Epitranscriptome modifications, particularly N6 methyladenosine (m(6)A), play a crucial role in translation regulation and synaptic plasticity. This study reveals that m(6)A modification is involved in NMDAR-dependent translation regulation and that its levels are correlated with changes in protein synthesis.
SCIENTIFIC REPORTS
(2022)
Article
Cell Biology
Rupali Vohra, Berta Sanz-Morello, Anna Luna Molgaard Tams, Zaynab Ahmad Mouhammad, Kristine Karla Freude, Jens Hannibal, Blanca Irene Aldana, Linda Hildegaard Bergersen, Miriam Kolko
Summary: The present study demonstrates that activation of HCA(1)R with 3,5-DHBA treatment can improve RGC survival and mitigate glutamate-induced retinal degeneration. Thus, HCA(1)R agonist administration may serve as a potential new strategy for rescuing RGCs and preventing visual disability.
Article
Neurosciences
Michelle Ninochka D'Souza, Sarayu Ramakrishna, Bindushree K. Radhakrishna, Vishwaja Jhaveri, Sreenath Ravindran, Lahari Yeramala, Deepak Nair, Dasaradhi Palakodeti, Ravi S. Muddashetty
Summary: The C-terminus domain of FMRP binds to ribosomes and regulates neuronal translation repression. The synergistic combination of FMRP domains is necessary for the dendritic distribution of FMRP and its association with microtubules. Phosphorylation at Serine-500 plays a critical role in modulating the dynamics of translation by controlling ribosome association.
MOLECULAR NEUROBIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Aishat O. Ameen, Kristine Freude, Blanca Aldana
Summary: This study summarizes the roles of short-chain fatty acids and medium-chain fatty acids in Alzheimer's disease, comparing the main findings on these lipid species in established animal models and recently developed human cell models of this devastating disorder.
Review
Biochemistry & Molecular Biology
Marion Kadlecova, Kristine Freude, Henriette Haukedal
Summary: Sex differences in brain morphology, sex hormones, aging processes, and immune responses need to be considered for proper modeling of neurological diseases such as Alzheimer's disease (AD), which has clear sex differences. Microglia, major players in the neuroinflammatory process in AD, are directly affected by sex hormones. The inclusion of both sexes in research studies is gaining attention.
Review
Biochemistry & Molecular Biology
Mariana Yolotzin Garcia-Bermudez, Rupali Vohra, Kristine Freude, Peter van Wijngaardenan, Keith Martin, Maj Schneider Thomsen, Blanca Irene Aldana, Miriam Kolko
Summary: This review discusses the diagnostic challenges of Alzheimer's disease (AD) and emphasizes the potential of using retinal alterations as early indicators. It highlights the complexity introduced by the similarities shared with other retinal diseases in the search for AD-specific markers. The review provides a comprehensive overview of the current landscape in AD diagnosis and highlights avenues for progress through retinal examination.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
