Results 81 to 90 of about 11,078,474 (189)

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Conformational-Dependent and Independent RNA Binding to the Fragile X Mental Retardation Protein

Journal of Nucleic Acids, 2011
The interaction between the fragile X mental retardation protein (FMRP) and BC1 RNA has been the subject of controversy. We probed the parameters of RNA binding to FMRP in several ways. Nondenaturing agarose gel analysis showed that BC1 RNA transcripts
Xin Yan, Robert B. Denman
doaj   +1 more source

The Fragile X Mental Retardation Protein in Circadian Rhythmicity and Memory Consolidation [PDF]

Molecular Neurobiology, 2009
The control of new protein synthesis provides a means to locally regulate the availability of synaptic components necessary for dynamic neuronal processes. The fragile X mental retardation protein (FMRP), an RNA-binding translational regulator, is a key player mediating appropriate synaptic protein synthesis in response to neuronal activity levels ...
Cheryl L, Gatto, Kendal, Broadie
openaire   +2 more sources

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1601-1609, November 2026.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

A Quantitative ELISA Assay for the Fragile X Mental Retardation 1 Protein [PDF]

The Journal of Molecular Diagnostics, 2009
Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency. While reliable and quantitative assays for the number of CGG repeats
Christine, Iwahashi, Flora, Tassone, Randi J, Hagerman, Dag, Yasui, George, Parrott, Danh, Nguyen, Greg, Mayeur, Paul J, Hagerman   +7 more
openaire   +2 more sources

Gender Justice in the Triple Planetary Crisis: A Scoping Review

Journal of Advanced Nursing, Volume 82, Issue 11, Page 9542-9594, November 2026.
ABSTRACT Aim To identify and report how gender justice is conceptualised and discussed in contemporary health literature in relation to the Triple Planetary Crisis of climate change, pollution and biodiversity loss, with a particular focus on the experiences of women and gender‐diverse populations, and the representation of nurses and other healthcare ...
Catelyn Richards, Micah Peters, Julia Charalambous, Lila Singh‐Peterson, Lucy Osborn, Aletha Ward, Jessica LeClair, Tracy Levett‐Jones   +7 more
wiley   +1 more source

Fragile X Mental Retardation Protein in Learning-Related Synaptic Plasticity

Molecules and Cells, 2009
Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP) due to silencing of the Fmr1 gene. As an RNA binding protein, FMRP is thought to contribute to synaptic plasticity by regulating plasticity-related protein synthesis and other signaling pathways.
Valentina, Mercaldo, Giannina, Descalzi, Min, Zhuo   +2 more
openaire   +2 more sources

Are UK Research Priorities Aligned? Comparing the Research Priorities of the Down Syndrome, Fragile X Syndrome and Williams Syndrome Communities, With the Research and Funding Landscape

Mind, Brain, and Education, Volume 20, Issue 4, November 2026.
ABSTRACT There is a lack of understanding of how research activity in learning disability compares with community research priorities in the United Kingdom, where an estimated 1.5 million people live with a learning disability. Using Down syndrome (DS), Fragile X syndrome (FXS) and Williams syndrome (WS) as model conditions with learning disability, we
Laura Cristescu, Elizabeth Pellicano, Gaia Scerif, Jo Van Herwegen, Emily K. Farran   +4 more
wiley   +1 more source

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P [PDF]

Biochemical Journal, 1999
The absence of fragile-X mental-retardation protein (FMRP) results in fragile-X syndrome. Two other fragile-X-related (FXR) proteins have been described, FXR1P and FXR2P, which are both very similar in amino acid sequence to FMRP. Interaction between the three proteins as well as with themselves has been demonstrated.
Tamanini, Filippo, Unen, L, Bakker, CE, Sacchi, N, Galjaard, H, Oostra, Ben, Hoogeveen, Andre   +6 more
openaire   +2 more sources

Raman Optical Activity as a Tool to Monitor Polynucleotide Conformation in Solutions

Chemistry – A European Journal, Volume 32, Issue 40, 27 October 2026.
Raman optical activity (ROA) studies of nucleic acids have been hindered by limited computational tools to link the spectra to the structure. The study shows that accurate density functional simulations are possible for model nucleotides, bringing more information about molecular geometry and dynamics in solutions.
Mohammed Siddhique Para Kkadan, Josef Kapitán, Jiří Kessler, Ondřej Zapletal, Valery Andrushchenko, Petr Bouř   +5 more
wiley   +1 more source