Cholesterol levels in Fragile X syndrome
Open accessAbstract
Fragile X syndrome (FXS) is associated with intellectual disability and behavioral dysfunction, including anxiety, ADHD symptoms, and autistic features. Although individuals with FXS are largely considered healthy and lifespan is not thought to be reduced, very little is known about the long‐term medical health of adults with FXS and no systematically collected information is available on standard laboratory measures from metabolic screens. During the course of follow up of a large cohort of patients with FXS we noted that many patients had low cholesterol and high density lipoprotein (HDL) values and thus initiated a systematic chart review of all cholesterol values present in charts from a clinic cohort of over 500 patients with FXS. Total cholesterol (TC), low density lipoprotein (LDL) and HDL were all significantly reduced in males from the FXS cohort relative to age‐adjusted population normative data. This finding has relevance for health monitoring in individuals with FXS, for treatments with cholesterol‐lowering agents that have been proposed to target the underlying CNS disorder in FXS based on work in animal models, and for potential biomarker development in FXS. © 2014 Wiley Periodicals, Inc.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Individuals with FXS have reduced peripheral cholesterol and triacylglycerol, and an abnormal profile of fatty acids.
“Individuals with FXS have reduced peripheral cholesterol and triacylglycerol (TAG), and an abnormal profile of fatty acids (FA)19–21, which questions the appropriateness of the lovastatin treatment.”
From An iPSC-derived astrocyte model of fragile X syndrome exhibits dysregulated cholesterol homeostasis (2023) · cites this paper as [19]
The Discussion (page not provided) reports lower total, HDL and LDL cholesterol in males with FXS; findings for females were inconclusive. It calls for a future study measuring fasting triglycerides and does not report reduced triacylglycerol or an abnormal fatty-acid profile. (LLM, conf=0.90)
Experimental — accuracy not yet measuredIndividuals with fragile X syndrome have low cholesterol, HDL, LDL, and ApoA1 levels, and their degree of maladaptive behaviors occurs in inverse relationship to cholesterol levels.
“Individuals with fragile X syndrome have low cholesterol, HDL, LDL, and ApoA1 levels [39–41], and their degree of maladaptive behaviors occurs in inverse relationship to cholesterol levels [40].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [39]
The Results and Discussion report lower total cholesterol, HDL, and LDL in males with fragile X syndrome; findings in females were less definitive. Our copy does not report low ApoA1 or an inverse relationship between maladaptive-behavior severity and cholesterol levels. The latter claim is specifically attached to citation [40], but the paper's mention of behavioral symptoms does not establish that relationship. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Prevalence of Childhood and Adult Obesity in the United States, 2011-2012
Ogden, C. L., Carroll, M. D., Kit, B. K., & Flegal, K. M. (2014) · JAMA · doi:10.1001/jama.2014.732 · Cited by 8,072 · see citing works
Willer (2013) · doi:10.1038/ng.2797 · Cited by 2,983 · see citing works
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072 · see citing works
Self-citationAbsence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476 · see citing works
Go, A. S., Mozaffarian, D., Roger, V. L., Benjamin, E. J., Berry, J. D., Blaha, M. J., Dai, S., Ford, E. S., Fox, C. S., Franco, S., et al. (2014) · Circulation · doi:10.1161/01.cir.0000442015.53336.12 · Cited by 1,408 · see citing works
FMR1 and the fragile X syndrome: Human genome epidemiology review
Crawford, D. C., Acuña, J. M., & Sherman, S. L. (2001) · Genetics in Medicine · doi:10.1097/00125817-200109000-00006 · Cited by 711 · see citing works
Advances in the Treatment of Fragile X Syndrome
Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., et al. (2009) · Pediatrics · doi:10.1542/peds.2008-0317 · Cited by 596 · see citing works
Self-citationThe translation of translational control by FMRP: therapeutic targets for FXS
Darnell, J. C., & Klann, E. (2013) · Nature Neuroscience · doi:10.1038/nn.3379 · Cited by 491 · see citing works
Self-citationHickman, T. B., BRIEFEL, R. R., Carroll, M. D., Rifkind, B. M., Cleeman, J. I., Maurer, K. R., & Johnson, C. L. (1998) · Preventive Medicine · doi:10.1006/pmed.1998.0376 · Cited by 375 · see citing works
Osterweil, E. K., Chuang, S.-C., Chubykin, A. A., Sidorov, M., Bianchi, R., Wong, R. K. S., & Bear, M. F. (2013) · Neuron · doi:10.1016/j.neuron.2012.01.034 · Cited by 230 · see citing works
Boekholdt, S. M., Arsenault, B. J., Hovingh, G. K., Mora, S., Pedersen, T. R., LaRosa, J. C., Welch, K. M. A., Amarenco, P., DeMicco, D. A., Tonkin, A. M., et al. (2013) · Circulation · doi:10.1161/circulationaha.113.002670 · Cited by 196 · see citing works
Outcome Measures for Clinical Trials in Fragile X Syndrome
Berry‐Kravis, E., Hessl, D. R., Abbeduto, L., Reiss, A. L., Beckel-Mitchener, A. C., & Urv, T. K. (2013) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e31829d1f20 · Cited by 154 · see citing works
Self-citationBennasar‐Veny, M., López‐González, Á. A., Tauler, P., Cespedes, M. L., Vicente-Herrero, T., Yáñez, A. M., Salvá, M. T., & Aguiló, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0063999 · Cited by 137 · see citing works
Werner, H. B., Krämer‐Albers, E., Strenzke, N., Saher, G., Tenzer, S., Ohno‐Iwashita, Y., de Monasterio‐Schrader, P., Möbius, W., Moser, T., Griffiths, I. R., et al. (2013) · Glia · doi:10.1002/glia.22456 · Cited by 133 · see citing works
Targeted treatments for fragile X syndrome
Berry‐Kravis, E., Knox, A. T., & Hervey, C. M. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9074-7 · Cited by 103 · see citing works
Self-citationTherapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond
Groß, C., Berry‐Kravis, E., & Bassell, G. J. (2011) · Neuropsychopharmacology · doi:10.1038/npp.2011.137 · Cited by 103 · see citing works
Self-citationUtari, A., Adams, E., Berry‐Kravis, E., Chavez, A. D., Huang, F. S., Ngotran, L., Boyd, A., Hessl, D. R., Gane, L. W., Tassone, F., et al. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9047-2 · Cited by 73 · see citing works
Self-citationAbbasi, F., Blasey, C. M., & Reaven, G. M. (2013) · American Journal of Clinical Nutrition · doi:10.3945/ajcn.112.047506 · Cited by 71 · see citing works
Understanding fragile X syndrome
Berry-Kravis, E., Grossman, A. W., Crnic, L. S., & Greenough, W. T. (2002) · Current Paediatrics · doi:10.1054/cupe.2002.0305 · Cited by 29 · see citing works
Self-citationUnaltered hormonal response to stress in a mouse model of fragile X syndrome
Qin, M., & Smith, C. B. (2008) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2008.03.010 · Cited by 28 · see citing works
Metabolic profiles in adults with autism spectrum disorder and intellectual disabilities
Moses, L., Katz, N., & Weizman, A. (2013) · European Psychiatry · doi:10.1016/j.eurpsy.2013.05.005 · Cited by 24 · see citing works
Thyroid function in fragile-X syndrome males.
Bregman, J. D., Leckman, J. F., & Ort, S. I. (1991) · PubMed · Cited by 18 · see citing works
Thyroid function in men with fragile X‐linked MR
Wilson, D. P., Carpenter, N. J., Berkovitz, G. D., Opitz, J. M., & Reynolds, J. F. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320310402 · Cited by 8 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
A synaptic perspective of fragile X syndrome and autism spectrum Disorders.
Bagni, C., & Zukin, R. S. (2019) · Neuron · doi:10.1016/j.neuron.2019.02.041 · Cited by 326 · see citing works
Rett syndrome: a neurological disorder with metabolic components
Kyle, S. M., Vashi, N., & Justice, M. J. (2018) · Open Biology · doi:10.1098/rsob.170216 · Cited by 213 · see citing works
Molecular Basis of Oxytocin Receptor Signalling in the Brain: What We Know and What We Need to Know
Busnelli, M., & Chini, B. (2017) · Current topics in behavioral neurosciences · doi:10.1007/7854_2017_6 · Cited by 161 · see citing works
Fragile X syndrome: a review of clinical and molecular diagnoses
Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S. (2017) · Italian Journal of Pediatrics · doi:10.1186/s13052-017-0355-y · Cited by 160 · see citing works
Fragile X targeted pharmacotherapy: lessons learned and future directions
Erickson, C. A., Davenport, M. H., Schaefer, T. L., Wink, L. K., Pedapati, E. V., Sweeney, J. A., Fitzpatrick, S. E., Brown, W. T., Budimirovic, D. B., Hagerman, R. J., et al. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9186-9 · Cited by 156 · see citing works
Self-citationTreating Rett syndrome: from mouse models to human therapies
Vashi, N., & Justice, M. J. (2019) · Mammalian Genome · doi:10.1007/s00335-019-09793-5 · Cited by 111 · see citing works
Gillberg, C., Fernell, E., Kočovská, E., Minnis, H., Bourgeron, T., Thompson, L., & Allely, C. S. (2017) · Autism Research · doi:10.1002/aur.1777 · Cited by 65 · see citing works
Petrov, A. M., Kasimov, M. R., & Zefirov, A. L. (2017) · Acta Naturae · doi:10.32607/20758251-2017-9-1-26-37 · Cited by 56 · see citing works
The translational regulator FMRP controls lipid and glucose metabolism in mice and humans
Leboucher, A., Pisani, D. F., Martinez-Gili, L., Chilloux, J., Bermudez-Martin, P., Van Dijck, A., Ganief, T., Macek, B., Becker, J. A. J., Le Merrer, J., et al. (2019) · Molecular Metabolism · doi:10.1016/j.molmet.2019.01.002 · Cited by 56 · see citing works
Intellectual disability and autism spectrum disorders ‘on the fly’: insights from Drosophila
Coll-Tané, M., Krebbers, A., Castells‐Nobau, A., Zweier, C., & Schenck, A. (2019) · Disease Models & Mechanisms · doi:10.1242/dmm.039180 · Cited by 55 · see citing works
Ouadda, A. B. D., Gauthier, M., Susan‐Resiga, D., Girard, E., Essalmani, R., Black, M. H., Marcinkiewicz, J., Forget, D., Hamelin, J., Evagelidis, A., et al. (2019) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.119.313247 · Cited by 57 · see citing works
Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function
Weisz, E. D., Towheed, A., Monyak, R. E., Toth, M. S., Wallace, D. C., & Jongens, T. A. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx387 · Cited by 50 · see citing works
VLDL-specific increases of fatty acids in autism spectrum disorder correlate with social interaction
Usui, N., Iwata, K., Miyachi, T., Takagai, S., Wakusawa, K., Nara, T., Tsuchiya, K. J., Matsumoto, K., Kurita, D., Kameno, Y., et al. (2020) · EBioMedicine · doi:10.1016/j.ebiom.2020.102917 · Cited by 45 · see citing works
Repurposing available drugs for neurodevelopmental disorders: The fragile X experience
Tranfaglia, M. R., Thibodeaux, C., Mason, D. J., Brown, D., Roberts, I., Smith, R. J., Guilliams, T., & Cogram, P. (2018) · Neuropharmacology · doi:10.1016/j.neuropharm.2018.05.004 · Cited by 39 · see citing works
Intercepting IRE1 kinase‐FMRP signaling prevents atherosclerosis progression
Yıldırım, Z., Baboo, S., Hamid, S. M., Atici, A. E., Tufanlı, Ö., Robichaud, S., Emerton, C., Diedrich, J. K., Vatandaslar, H., Nikolos, F., et al. (2022) · EMBO Molecular Medicine · doi:10.15252/emmm.202115344 · Cited by 35 · see citing works
New insights of altered lipid profile in Fragile X Syndrome
Çaku, A., Seidah, N. G., Lortie, A., Gagné, N., Perron, P., Dubé, J., & Corbin, F. (2017) · PLOS ONE · doi:10.1371/journal.pone.0174301 · Cited by 36 · see citing works
Altered steady state and activity-dependent de novo protein expression in fragile X syndrome
Bowling, H. L., Bhattacharya, A., Zhang, G., Alam, D. H., Lebowitz, J. Z., Bohm-Levine, N., Lin, D., Singha, P., Mamcarz, M., Puckett, R. E., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09553-8 · Cited by 33 · see citing works
Self-citationBenachenhou, S., Etcheverry, A., Galarneau, L., Dubé, J., & Çaku, A. (2019) · Autism Research · doi:10.1002/aur.2183 · Cited by 33 · see citing works
Vallés, A. S., & Barrantes, F. J. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.744597 · Cited by 33 · see citing works
Pharmacotherapy for Fragile X Syndrome: Progress to Date
Davenport, M. H., Schaefer, T. L., Friedmann, K., Fitzpatrick, S. E., & Erickson, C. A. (2016) · Drugs · doi:10.1007/s40265-016-0542-y · Cited by 31 · see citing works
Kurosaki, T., Mitsutomi, S., Hewko, A., Akimitsu, N., & Maquat, L. E. (2022) · Molecular Cell · doi:10.1016/j.molcel.2022.10.018 · Cited by 29 · see citing works
Tierney, E., Remaley, A. T., Thurm, A., Jager, L. R., Wassif, C. A., Kratz, L. E., Bailey-Wilson, J. E., Bukelis, I., Sarphare, G., Jung, E. S., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01580-8 · Cited by 26 · see citing works
Remmerden, M. C. V., Hoogland, L. M. P., Mous, S. E., Dierckx, B., Coesmans, M., Moll, H. A., Lubbers, K., Lincken, C. R., & van Eeghen, A. M. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-03973-7 · Cited by 26 · see citing works
Fragile X syndrome: Are signaling lipids the missing culprits?
Tabet, R., Vitale, N., & Moine, H. (2016) · Biochimie · doi:10.1016/j.biochi.2016.09.002 · Cited by 27 · see citing works
The RNA-binding fragile-X mental retardation protein and its role beyond the brain
Malecki, C., Hambly, B. D., Jeremy, R., & Robertson, E. (2020) · Biophysical Reviews · doi:10.1007/s12551-020-00730-4 · Cited by 24 · see citing works
The assessment of serum lipid profiles of children with attention deficit hyperactivity disorder
Uğur, Ç., Üneri, Ö. Ş., Göker, Z., Sekmen, E., Aydemir, H., & Solmaz, E. (2018) · Psychiatry Research · doi:10.1016/j.psychres.2018.04.006 · Cited by 22 · see citing works
An “Omic” Overview of Fragile X Syndrome
Dionne, O., & Corbin, F. (2021) · Biology · doi:10.3390/biology10050433 · Cited by 22 · see citing works
Low Levels of HDL in Fragile X Syndrome Patients
Lisik, M. Z., Gutmajster, E., & Sieroń, A. L. (2016) · Lipids · doi:10.1007/s11745-015-4109-6 · Cited by 19 · see citing works
Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome
Dijck, A. V., Barbosa, S., Bermudez-Martin, P., Khalfallah, O., Gilet, C., Martinuzzi, E., Elinck, E., Kooy, R. F., Glaichenhaus, N., & Davidovic, L. (2020) · BMC Neurology · doi:10.1186/s12883-020-01715-2 · Cited by 18 · see citing works
Cardiovascular Implications in Idiopathic and Syndromic Obesity in Childhood: An Update
Delvecchio, M., Pastore, C., Valente, F., & Giordano, P. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00330 · Cited by 18 · see citing works
Ren, B., Burkovetskaya, M., Jung, Y., Bergdolt, L., Totusek, S., Martinez‐Cerdeno, V., Stauch, K., Korade, Z., & Dunaevsky, A. (2023) · Glia · doi:10.1002/glia.24331 · Cited by 18 · see citing works
White Matter Alterations in Fmr1 Knockout Mice during Early Postnatal Brain Development
Shi, D., Xu, S., Zhuo, J., McKenna, M. C., & Gullapalli, R. P. (2019) · Developmental Neuroscience · doi:10.1159/000506679 · Cited by 15 · see citing works
Lin, J. H. X., de Rezende, V. L., da Costa, M. D. A., de Oliveira, J., & Gonçalves, C. L. (2023) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2023.173522 · Cited by 15 · see citing works
Manigandan, S., & Yun, J. W. (2022) · Journal of Cellular Biochemistry · doi:10.1002/jcb.30231 · Cited by 13 · see citing works
Androgen levels in autism spectrum disorders: a systematic review and meta-analysis
Wang, Z., Zhang, B., Mu, C., Qiao, D., Huan, C., Zhao, Y., Cui, H., Zhang, R., & Li, S. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1371148 · Cited by 11 · see citing works
D’Antoni, S., Spatuzza, M., Bonaccorso, C. M., & Catania, M. V. (2024) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2024.105731 · Cited by 11 · see citing works
The mGluR Theory of Fragile X: From Mice to Men
Stoppel, L. J., Osterweil, E. K., & Bear, M. F. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804461-2.00009-3 · Cited by 9 · see citing works
Consumption of Breast Milk Is Associated with Decreased Prevalence of Autism in Fragile X Syndrome
Westmark, C. J. (2021) · Nutrients · doi:10.3390/nu13061785 · Cited by 10 · see citing works
An iPSC-derived astrocyte model of fragile X syndrome exhibits dysregulated cholesterol homeostasis
Talvio, K., Wagner, V. A., Minkeviciene, R., Kirkwood, J. S., Kulinich, A. O., Umemori, J., Bhatia, A., Hur, M., Käkelä, R., Ethell, I. M., et al. (2023) · Communications Biology · doi:10.1038/s42003-023-05147-9 · Cited by 8 · see citing works
“Decreased cholesterol has been previously reported in serum and platelets of individuals with FXS (1-3) as well as in the serum of an FXS rat model (4).”
BackgroundActivity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome
Bustos, F., Mathur, S., Espejo-Serrano, C., Toth, R. L., Hastie, C. J., Virdee, S., & Findlay, G. M. (2022) · Life Science Alliance · doi:10.26508/lsa.202101248 · Cited by 8 · see citing works
Self-citationBenachenhou, S., Laroui, A., Dionne, O., Rojas, D., Toupin, A., & Çaku, A. (2023) · International review of neurobiology · doi:10.1016/bs.irn.2023.08.011 · Cited by 8 · see citing works
Clinical gene therapy development for the central nervous system: Candidates and challenges for AAVs
Leong, T. W., Pal, A., Cai, Q., Gao, Z., Li, X., Bleris, L. G., Hayenga, H. N., & Qin, Z. (2023) · Journal of Controlled Release · doi:10.1016/j.jconrel.2023.04.009 · Cited by 7 · see citing works
Alteration of Fatty Acid Profile in Fragile X Syndrome
Abolghasemi, A., Carullo, M. P., Aguilera, E. C., Laroui, A., Plantefeve, R., Rojas, D., Benachenhou, S., Ramírez, M. V., Proteau-Lemieux, M., Lepage, J.-F., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231810815 · Cited by 6 · see citing works
Schuurmans, I. K., Smajlagić, D., Baltramonaityte, V., Malmberg, A., Neumann, A., Creasey, N., Felix, J. F., Tiemeier, H. W., Pingault, J., Czamara, D., et al. (2025) · Biological Psychiatry · doi:10.1016/j.biopsych.2025.09.005 · Cited by 6 · see citing works
Gillberg, C., Allely, C. S., Bourgeron, T., Coleman, M., Fernell, E., Hadjikhani, N. K., & Sarovic, D. (2019) · Cambridge University Press eBooks · doi:10.1017/9781108297769.007 · Cited by 4 · see citing works
Beyond Moco Biosynthesis―Moonlighting Roles of MoaE and MOCS2
Suganuma, T. (2022) · Molecules · doi:10.3390/molecules27123733 · Cited by 3 · see citing works
Altered transposon element-derived genes distort oxygen-free radical scavenger systems in FXD
Suganuma, T., Hassan, H., Swanson, S., Laxman, S., & Workman, J. L. (2026) · NAR Molecular Medicine · doi:10.1093/narmme/ugag010 · Cited by 2 · see citing works
Therapeutic approaches for the future treatment of Fragile X
Sastre, A., Campillo, N. E., Gil, C., & Martı́nez, A. (2015) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2015.01.003 · Cited by 2 · see citing works
Is Cholesterol the Key Factor for Autism?
Lingwood, C. A. (2020) · American Journal of Biomedical Science & Research · doi:10.34297/ajbsr.2020.07.001206 · Cited by 2 · see citing works
Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?
Valencia, M. L., Sofela, F. A., Jongens, T. A., & Sehgal, A. (2024) · Trends in Neurosciences · doi:10.1016/j.tins.2024.06.006 · Cited by 2 · see citing works
Sterol biosynthesis, brain development, and disease
Peeples, E. S., Korade, Ž., & Mirnics, K. (2026) · Journal of Clinical Investigation · doi:10.1172/jci208000 · Cited by 1 · see citing works
Laroui, A., Rojas, D., Bouhour, S., Proteau-Lemieux, M., Galarneau, L., Benachenhou, S., Abolghasemi, A., Plantefève, R., Mallet, P., Corbin, F., et al. (2025) · Journal of Lipid Research · doi:10.1016/j.jlr.2025.100787 · Cited by 1 · see citing works
Cell type-specific assessment of cholesterol distribution in models of neurodevelopmental disordersPreprint
Czernecki, C., Dixit, S., Riezman, I., Innocenti, S., Bornmann, C., Pfrieger, F. W., Riezman, H., & Scheiffele, P. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.11.16.516849 · Cited by 1 · see citing works
Lung Defects Contribute to Respiratory Symptoms in a Mecp2-mutant Mouse Model of Rett Syndrome
Vashi, N. (2021) · TSpace (University of Toronto)
Electrochemical immunosensing of low-density lipoprotein based on sol-gel encapsulation
do Egito, E. M. N., Frías, I. A. M., Oliveira, M. D. L., & Andrade, C. A. S. (2023) · Brazilian Journal of Pharmaceutical Sciences · doi:10.1590/s2175-97902023e22430
Lipid-Related Pathophysiology of ASD
Noah, K. K., & Tierney, E. (2023) · Springer eBooks · doi:10.1007/978-3-031-42383-3_8
Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations
Valencia, M. L., Aponte, R. A. V., Baur, J. A., Jongens, T. A., & Sehgal, A. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf149
Zhao, X., Zhou, J., Chyu, K., Erbay, E., Cercek, B., Shah, P. K., & Dimayuga, P. C. (2026) · PLoS ONE · doi:10.1371/journal.pone.0340222
Bermudez-Martin, P. (2020) · theses.fr (ABES) · doi:10.70675/d0d223ffzbc0ez44d9z8475z153f265e94f5
- Authors
- Berry‐Kravis, E., Levin, R., Shah, H., Mathur, S., Darnell, J. C., & Ouyang, B.
- Affiliations
- Rush University Medical Center (US)
- Rockefeller University (US)
- Corresponding author
- Berry‐Kravis, Elizabeth
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2014-11-25
- Volume
- 167
- Issue
- 2
- Pages
- 379-384
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC5436717
- OpenAlex
- W1998974902
- Cited by
- 59
- References
- 23
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 3 · 2023: 7 · 2022: 7 · 2021: 5 · 2020: 6 · 2019: 10 · 2018: 3 · 2017: 8 · 2016: 2 · 2015: 2
- FWCI
- 2.63
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD040647)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X syndrome, cholesterol levels, lipid metabolism, low-density lipoprotein, high-density lipoprotein, total cholesterol, cholesterol-lowering therapy, biomarkers, intellectual disability
- MeSH terms
- Adult, Child, Preschool, Cholesterol, Female, Fragile X Syndrome, Humans, Male, Risk Factors, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
