4 results match your criteria: "Colorado (Dr Lynch); School of Nursing[Affiliation]"
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
March 2024
Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Article Synopsis
- * The study focuses on 48 de novo missense variants in GRIN1, GRIN2A, and GRIN2B that affect the M3 transmembrane helix, identified in children with conditions like epilepsy and developmental delays.
- * Most of these variants lead to a gain-of-function effect, promoting NMDAR channel activity, reinforcing the importance of the M3 region in receptor function, and providing insights into how certain drugs may affect these variant receptors.
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design.
Neurology
October 2022
From the Clinical Data Science GmbH (C.R.), Basel, Switzerland; Bruce Lefroy Centre for Genetic Health Research (L.A.C., M.D.), Murdoch Children's Research Institute, Parkville, Victoria; Department of Paediatrics (L.A.C., M.D.), University of Melbourne. Parkville, Victoria, Australia; Emory University (G.W.), Atlanta, GA; Department of Neurology (S.H.S., M.C.), McKnight Brain Institute, Gainesville, FL; University of Minnesota (K.B.), Minneapolis; Service de Neurologie (A.D.), Département de Médecine, Unité de Troubles du Mouvement André-Barbeau, Centre Hospitalier de l'Université de Montréal (CHUM) and CRCHUM, Quebec, Canada; University of Chicago (C.G.), IL; Ohio State University (J.C.H.), Columbus; University of Auckland (R.R.), New Zealand; University of Colorado (L.S.), Denver; Divisions of Neurology and Clinical and Metabolic Genetics (G.Y.), Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; University of Iowa (K.M.), Iowa City, Carver College of Medicine, Iowa City, IA; University of South Florida (T.Z.), Tampa; University of California Los Angeles (S.P.); and Division of Neurology (D.R.L.), Children's Hospital of Philadelphia, PA.
Article Synopsis
- The study aims to clarify patterns of neurologic deterioration in Friedreich ataxia (FRDA), focusing on genetic diversity and age stratification to enhance future research design.
- It analyzed data from over 1,100 participants using various clinical outcome measures and sought to differentiate disease progression based on factors like age of onset and ambulation status.
- Findings indicate that younger patients experience more pronounced declines in function, suggesting that future clinical studies should focus on specific age groups and functional status to minimize variability and improve treatment balance.
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
Ann Clin Transl Neurol
June 2021
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Objective: The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich's ataxia (FRDA) and document the factors leading to the requirement for corrective surgery.
Methods: Data on the prevalence of scoliosis and scoliosis surgery from up to 17 years of follow-up collected during a large natural history study in FRDA (1116 patients at 4928 visits) were summarized descriptively and subjected to time to event analyses.
Results: Well over 90% of early or typical FRDA patients (as determined by age of onset) developed intermediate to severe scoliosis, while patients with a later onset (>14 years) had no or much lower prevalence of scoliosis.
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.
JCI Insight
November 2016
Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia.
Systemic mitochondrial energy deficiency is implicated in the pathophysiology of many age-related human diseases. Currently available tools to estimate mitochondrial oxidative phosphorylation (OXPHOS) capacity in skeletal muscle in vivo lack high anatomic resolution. Muscle groups vary with respect to their contractile and metabolic properties.
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