Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice.

Authors: Hooshmandi, Mehdi¹ (AUTHOR), Ho-Tieng, David¹ (AUTHOR), Lister, Kevin C.¹ (AUTHOR), Cai, Weihua¹ (AUTHOR), Wong, Calvin¹ (AUTHOR), Brown, Nicole¹ (AUTHOR), Fan, Jonathan¹ (AUTHOR), Hovhannisyan, Volodya¹ (AUTHOR), Uttam, Sonali¹ (AUTHOR), Prager-Khoutorsky, Masha² (AUTHOR), Sonenberg, Nahum³ (AUTHOR), Gkogkas, Christos G.⁴ (AUTHOR) cgkogkas@bri.forth.gr, Khoutorsky, Arkady^1,5 (AUTHOR) arkady.khoutorsky@mcgill.ca

Source: Molecular Autism. 3/7/2025, Vol. 16 Issue 1, p1-10. 10p.

Subject Terms: *FRAGILE X syndrome, *LIFE sciences, *MEDICAL sciences, *GENE expression, *ANIMAL behavior

FMR1 Disorders: Basics of Biology and Therapeutics in Development.

Authors: Gillett, Drew A.¹ (AUTHOR), Tigro, Helene¹ (AUTHOR), Wang, Yuan¹ (AUTHOR), Suo, Zucai¹ (AUTHOR) zucai.suo@med.fsu.edu

Source: Cells (2073-4409). Dec2024, Vol. 13 Issue 24, p2100. 15p.

Subject Terms: *FRAGILE X syndrome, *X chromosome, *DEVELOPMENTAL biology, *GENE expression, *EXTRACELLULAR vesicles

Ascorbic Acid Ameliorates Molecular and Developmental Defects in Human-Induced Pluripotent Stem Cell and Cerebral Organoid Models of Fragile X Syndrome.

Authors: Gunapala, Keith M.^1,2 (AUTHOR) aseel.gadban@mail.huji.ac.il, Gadban, Aseel² (AUTHOR), Noreen, Faiza^1,3 (AUTHOR) faiza.noreen@unibas.ch, Schär, Primo¹ (AUTHOR) primo.schaer@unibas.ch, Benvenisty, Nissim² (AUTHOR) nissimb@mail.huji.ac.il, Taylor, Verdon¹ (AUTHOR) nissimb@mail.huji.ac.il

Source: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p12718. 14p.

Subject Terms: *FRAGILE X syndrome, *PLURIPOTENT stem cells, *AUTISM spectrum disorders, *GENE expression, *HUMAN stem cells, *GENE silencing

Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome.

Authors: Norris, Jordan E.¹ (AUTHOR), Berry-Kravis, Elizabeth M.² (AUTHOR), Harnett, Mark D.³ (AUTHOR), Reines, Scott A.³ (AUTHOR), Reese, Melody A.⁴ (AUTHOR), Outterson, Abigail H.² (AUTHOR), Michalak, Claire² (AUTHOR), Furman, Jeremiah² (AUTHOR), Gurney, Mark E.³ (AUTHOR), Ethridge, Lauren E.^1,5 (AUTHOR) ethri@ou.edu

Source: Molecular Autism. 11/2/2024, Vol. 15 Issue 1, p1-6. 6p.

Subject Terms: *FRAGILE X syndrome, *EVOKED potentials (Electrophysiology), *COGNITIVE ability, *BIOMARKERS, *INTELLECTUAL disabilities, *SPINOCEREBELLAR ataxia

Validating brain activity measures as reliable indicators of individual diagnostic group and genetically mediated sub-group membership in Fragile X Syndrome.

Authors: Ethridge, Lauren E.^1,2 (AUTHOR) ethri@ou.edu, Pedapati, Ernest V.^3,4,5 (AUTHOR), Schmitt, Lauren M.^6,7 (AUTHOR), Norris, Jordan E.¹ (AUTHOR), Auger, Emma¹ (AUTHOR), De Stefano, Lisa A.⁴ (AUTHOR), Sweeney, John A.⁵ (AUTHOR), Erickson, Craig A.^4,5 (AUTHOR)

Source: Scientific Reports. 10/17/2024, Vol. 14 Issue 1, p1-16. 16p.

Subject Terms: *FRAGILE X syndrome, *MACHINE learning, *SMALL molecules, *ELECTROENCEPHALOGRAPHY, *CLINICAL trials

Similar Gap-Overlap Profiles in Children with Fragile X Syndrome and IQ-Matched Autism.

Authors: Wall, Carla A.¹, carla.wall@duke.edu, Shic, Frederick^2,3, Will, Elizabeth A.⁴, Wang, Quan⁵, Roberts, Jane E.⁶

Source: Journal of Autism & Developmental Disorders; Mar2025, Vol. 55 Issue 3, p891-903, 13p

Syntactic Growth of Adolescent Boys With Fragile X Syndrome or Down Syndrome: A Longitudinal Study.

Authors: Linert, Jamie¹, liner004@umn.edu, Finestack, Lizbeth H.¹, Abbeduto, Leonard²

Source: Journal of Speech, Language & Hearing Research; Jan2025, Vol. 68 Issue 1, p193-215, 23p

A Two-Hit Approach Inducing Flurothyl Seizures in Fmr1 Knockout Mice Impacts Anxiety and Repetitive Behaviors.

Authors: Blandin, Katherine J.¹ (AUTHOR) katie_blandin1@baylor.edu, Narvaiz, David A.¹ (AUTHOR) david_narvaiz1@baylor.edu, Sullens, Donald Gregory¹ (AUTHOR) paigedeannwomble@gmail.com, Womble, Paige D.¹ (AUTHOR), Hodges, Samantha L.² (AUTHOR) hodgessamantha6@gmail.com, Binder, Matthew S.³ (AUTHOR) mbinder@trinity.edu, Faust, Amanda¹ (AUTHOR), Nguyen, Phuoc H.⁴ (AUTHOR) phuoc.nguyen@som.umaryland.edu, Pranske, Zachary J.⁵ (AUTHOR) zpranske@brandeis.edu, Lugo, Joaquin N.^1,6,7 (AUTHOR) joaquin_lugo@baylor.edu

Source: Brain Sciences (2076-3425). Sep2024, Vol. 14 Issue 9, p892. 18p.

Subject Terms: *FRAGILE X syndrome, *AUTISM spectrum disorders, *AUDITORY perception, *MAZE tests, *KNOCKOUT mice

Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System.

Authors: Milojevic, Sara¹ (AUTHOR) sara.milojevic@med.bg.ac.rs, Ghosh, Arijit² (AUTHOR) arijitghosh2009@gmail.com, Makevic, Vedrana³ (AUTHOR) vedrana.parlic@med.bg.ac.rs, Stojkovic, Maja¹ (AUTHOR) maja.stojkovic@med.bg.ac.rs, Capovilla, Maria⁴ (AUTHOR) maria.capovilla@ipmc.cnrs.fr, Tosti, Tomislav⁵ (AUTHOR) tosti@chem.bg.ac.rs, Budimirovic, Dejan^6,7 (AUTHOR) budimirovic@kennedykrieger.org, Protic, Dragana^1,8 (AUTHOR) dragana.protic@med.bg.ac.rs

Source: International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7949. 16p.

Subject Terms: *FRAGILE X syndrome, *CIRCADIAN rhythms, *FRUIT flies, *BEHAVIORAL research, *SLEEP, *GENETIC models, *DROSOPHILA melanogaster

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.

Authors: Montanaro, Federica Alice Maria^1,2 (AUTHOR), Alfieri, Paolo¹ (AUTHOR) paolo.alfieri@opbg.net, Caciolo, Cristina¹ (AUTHOR), Brunetti, Alessia³ (AUTHOR), Airoldi, Alessandra³ (AUTHOR), de Florio, Anna³ (AUTHOR), Tinella, Luigi² (AUTHOR), Bosco, Andrea² (AUTHOR), Vicari, Stefano^1,4 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 7/12/2024, Vol. 19 Issue 1, p1-13. 13p.

Subject Terms: *FRAGILE X syndrome, *PREMATURE menopause, *ITALIAN language, *CHILDREN'S hospitals, *GENE expression, *SOCIAL anxiety, *LEARNING disabilities, *NEUROBEHAVIORAL disorders

Geographic Terms: ITALY

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Adult Inception of Ketogenic Diet Therapy Increases Sleep during the Dark Cycle in C57BL/6J Wild Type and Fragile X Mice.

Authors: Westmark, Pamela R.¹ (AUTHOR) prwestmark@wisc.edu, Swietlik, Timothy J.¹ (AUTHOR) tswietlik@wisc.edu, Runde, Ethan¹ (AUTHOR) erunde2@wisc.edu, Corsiga, Brian¹ (AUTHOR) bcorsiga@wisc.edu, Nissan, Rachel¹ (AUTHOR) rnissan@wisc.edu, Boeck, Brynne¹ (AUTHOR) bboeck@wisc.edu, Granger, Ricky¹ (AUTHOR) rhgranger@wisc.edu, Jennings, Erica¹ (AUTHOR) emjennings2@wisc.edu, Nebbia, Maya¹ (AUTHOR) mnebbia@wisc.edu, Thauwald, Andrew¹ (AUTHOR) thauwald@wisc.edu, Lyon, Greg¹ (AUTHOR) gregory.lyon@focus.org, Maganti, Rama K.¹ (AUTHOR) maganti@neurology.wisc.edu, Westmark, Cara J.^1,2 (AUTHOR) westmark@wisc.edu

Source: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 12, p6679. 16p.

Subject Terms: *MICE, *FRAGILE X syndrome, *WEIGHT loss, *KETOGENIC diet, *NON-REM sleep, *DIET therapy, *SLEEP, *SLEEP-wake cycle

Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back.

Authors: Taha, Mohamed S.^1,2 (AUTHOR) mohamed.taha@hhu.de, Ahmadian, Mohammad Reza¹ (AUTHOR) reza.ahmadian@hhu.de

Source: Biomolecules (2218-273X). Apr2024, Vol. 14 Issue 4, p399. 14p.

Subject Terms: *FRAGILE X syndrome, *RNA-binding proteins, *DNA repair, *ORGANELLE formation, *NUCLEOLUS, *STRESS granules, *GENETIC translation

Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the FORWARD Registry and Database Multisite Study.

Authors: Lachiewicz, Ave M.¹, ave.lachiewicz@duke.edu, Stackhouse, Tracy M.², Burgess, Kristin³, Burgess, Debra¹, Andrews, Howard F.⁴, Choo, Tse-Hwei⁵, Kaufmann, Walter E.⁶, Kidd, Sharon A.⁷

Source: Journal of Autism & Developmental Disorders; Nov2024, Vol. 54 Issue 11, p4259-4277, 19p

De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.

Authors: Bui, Hoa Thi Phuong^1,2 (AUTHOR), Huy Do, Duong¹ (AUTHOR), Ly, Ha Thi Thanh¹ (AUTHOR), Tran, Kien Trung³ (AUTHOR), Le, Huong Thi Thanh³ (AUTHOR), Nguyen, Kien Trung³ (AUTHOR), Pham, Linh Thi Dieu³ (AUTHOR), Le, Hau Duc⁴ (AUTHOR), Le, Vinh Sy^3,5 (AUTHOR), Mukhopadhyay, Arijit² (AUTHOR) A.Mukhopadhyay@salford.ac.uk, Nguyen, Liem Thanh³ (AUTHOR) A.Mukhopadhyay@salford.ac.uk

Source: PLoS ONE. 3/7/2024, Vol. 19 Issue 3, p1-12. 12p.

Subject Terms: *AUTISM spectrum disorders, *FRAGILE X syndrome, *AUTISTIC people, *VIETNAMESE people, *GENETIC testing

Geographic Terms: VIETNAM

Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome.

Authors: Giua, Gabriele^1,2 (AUTHOR), Iezzi, Daniela^1,2 (AUTHOR), Caceres-Rodriguez, Alba^1,2 (AUTHOR), Strauss, Benjamin^1,2 (AUTHOR), Chavis, Pascale^1,2 (AUTHOR), Manzoni, Olivier J.^1,2,3 (AUTHOR) olivier.manzoni@inserm.fr

Source: Biology of Sex Differences. 2/21/2024, Vol. 15 Issue 1, p1-15. 15p.

Subject Terms: *FRAGILE X syndrome, *X chromosome, *DEEP learning, *LABORATORY mice, *SOUNDS, *ANIMAL disease models, *AUTISM spectrum disorders, *GENE silencing

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Authors: Müller, A. R.^1,2,3 (AUTHOR), den Hollander, B.^1,3,4 (AUTHOR), van de Ven, P. M.⁵ (AUTHOR), Roes, K. C. B.⁶ (AUTHOR), Geertjens, L.^7,8 (AUTHOR), Bruining, H.^3,7,8,9 (AUTHOR), van Karnebeek, C. D. M.^1,3,4,10 (AUTHOR), Jansen, F. E.¹¹ (AUTHOR), de Wit, M. C. Y.^12,13 (AUTHOR), ten Hoopen, L. W.^12,14 (AUTHOR), Rietman, A. B.^12,14 (AUTHOR), Dierckx, B.^12,14 (AUTHOR), Wijburg, F. A.¹ (AUTHOR), Boot, E.^2,15,16 (AUTHOR), Brands, M. M. G.^1,3,4 (AUTHOR), van Eeghen, A. M.^1,2,3 (AUTHOR) a.m.vaneeghen@amsterdamumc.nl

Source: BMC Psychiatry. 1/4/2024, Vol. 24 Issue 1, p1-14. 14p.

Subject Terms: *FRAGILE X syndrome, *TUBEROUS sclerosis, *EPILEPSY, *SANFILIPPO syndrome, *CANNABIDIOL, *ATTENTION-deficit hyperactivity disorder

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GABAergic Progenitor Cell Graft Rescues Cognitive Deficits in Fragile X Syndrome Mice.

Authors: Wang, Chen^1,2 (AUTHOR), Liu, Jia‐Yu^2,3 (AUTHOR), Su, Li‐Da^4,5 (AUTHOR), Wang, Xin‐Tai⁶ (AUTHOR), Bian, Yu‐Peng⁷ (AUTHOR), Wang, Zhao‐Xiang⁸ (AUTHOR), Ye, Lu‐Yu⁹ (AUTHOR), Lu, Xin‐Jiang¹⁰ (AUTHOR), Zhou, Lin² (AUTHOR), Chen, Wei² (AUTHOR), Yang, Wei⁹ (AUTHOR), Liu, Jun¹ (AUTHOR) liujun@gzhmu.edu.cn, Wang, Luxi^2,7 (AUTHOR) luxiwang@zju.edu.cn, Shen, Ying^1,2,7,11 (AUTHOR) yshen@zju.edu.cn

Source: Advanced Science. 3/13/2025, Vol. 12 Issue 10, p1-17. 17p.

Subject Terms: *FRAGILE X syndrome, *PYRAMIDAL neurons, *CELL transplantation, *PROGENITOR cells, *NEUROPLASTICITY, *AMPA receptors