David L. Nelson

Last updated
David L. Nelson
Born1956 (age 67–68)
Washington, D.C.
Alma mater University of Virginia (BA)
Massachusetts Institute of Technology MIT (PhD, Postdoc)
Baylor College of Medicine (Postdoc)
AwardsWilliam Rosen Award (2000)
Huntington Disease Society of America Leadership Award (200)
Barbara Bowman Distinguished Geneticist (2010)
Scientific career
Fields Molecular genetics, Human genome, Segmental duplication, Gene duplication
Institutions University of Virginia
MIT Department of Biology
National Institute of Neurological Disorders and Stroke
Baylor College of Medicine
Thesis Chromosome Transfer of Introduced Selectable Markers: Use in Gene Mapping and Isolation (1984)
Academic advisors David Housman

David L. Nelson (born 1956) is an American human geneticist, currently an associate director at the Intellectual and Developmental Disabilities Research Center (1995), and professor at the Department of Molecular and Human Genetics at Baylor College of Medicine BCM since 1999. Since 2018, he is the director at the Cancer and Cell Biology Ph.D program, and the director of Integrative Molecular and Biomedical Sciences Ph.D since 2015 at BCM. [1] [2]

Contents

Education and career

Nelson received a bachelor's degree from the University of Virginia in 1978 and received his PhD in molecular genetics from the Massachusetts Institute of Technology in 1984. He carried out his postdoctoral training at Massachusetts Institute of Technology (1984–1985) and National Institutes of Health before moving to Baylor College of Medicine.

Nelson joined the MIT Center for Cancer Research (CCR) group of David Housman at the Massachusetts Institute of Technology as a postdoctoral trainee (1986–1989). Nelson's work using introduced selectable genes expanded approaches to whole human genome mapping. From 1984 to 1985, in an intramural National Institutes of Health program at the laboratory of Robert Lazzarini, Nelson studied neuroscience and defined genes encoding neurofilament proteins. In 1986 he joined the C. Thomas Caskey laboratory at the Institute of Molecular Genetics, Baylor College of Medicine. [3]

Applying PCR, a technique that allows rapid gene mapping and isolation of specific chromosomal regions, Nelson et al. identified chromosomal locations of large fragments of the human X chromosome; [4] Nelson contributed to the human, mouse and fly reference sequences and was a co-discoverer of the mutation that causes Fragile X syndrome as an expansion of a trinucleotide repeat in the FMR1 gene. [5] Nelson's contributions have led to the description of Lowe syndrome, [6] and the identification of FMR2 for FRAXE syndrome. [7]

Contributions to science

Human Genome Project

Nelson's molecular techniques led to the development of genome mapping and sequencing and discovery of disease genes, contributing efforts to map and sequence of the human X chromosome. He was a leader in genetic and genomic analyses across all species. [4] [8] [9] [10]

Incontinentia Pigmenti (IP)

With a group of international collaborators, Nelson's research group was able to identify a recurrent, homology-driven deletion in the NEMO gene in Incontinentia pigmenti (IP), an X-linked genetic disease. [11] [12] [13] [14] [15]

Fragile X syndrome

Unstable repeats as mutations in human genetic disease

Nelson and other collaborators at BMC, Emory University, and Erasmus University Rotterdam identified a massive expansion of CGG repeat (Trinucleotide repeat disorder) in FMR1. This was the first to be identified as the underlying mutations in human genetic disorders. Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders such as myotonic dystrophy, Huntington's disease, and amyotrophic lateral sclerosis. [5] [16] [17] [18]

FMR1 in neuronal function

By studying humans, mice, flies and yeast Nelson's research group has characterized the origins of instability in the repeat, the consequences of "premutation" length expansions, and the function of FMR1 and related FXR1 and FXR2. Nelson and his research group have defined roles for FMR1 and paralogs in circadian rhythm, energy metabolism, neuronal stem cell development, and microRNA function. Their research results are being used in research to define the role of FMR1 in development and potential treatment for these diseases in adulthood. [19] [20] [21] [22] [23]

Fragile X tremor ataxia syndrome (FXTAS)

FXTAS individuals are cognitively unaffected until they reach their 60 or 70, when they show neural degeneration and nuclear inclusions during autopsy. Nelson's research group has used flies and mice to identify and characterize modifiers that showed that the CGG repeat is necessary and sufficient to affect mammalian neurons. Models developed by Nelson's research group have improved the understanding of mechanisms of this disease, including a role for RNA-binding functions such as TDP-43 and alterations in 5-Hydroxymethylcytosine. [24] [25] [26] [27]

Public service

Nelson is a member of the Board of Directors of the American Society of Human Genetics, was its President in 2018, and served as Secretary from 2003 to 2009.

Nelson has served in many advisory boards and committees, including FRAXA Research Foundation Advisory Board (1999–present), National Fragile X Foundation Advisory Board (1999–present), March of Dimes Grants Review Board (2010–2015), Hungtinton Disease Society of America Steering Committee (1999–2010), United States NIH/NICHD Mental Retardation Review Committee (1998–2002), and US DOE Joint Genome Institute Advisory Board (1997–2000).

Nelson served on the editorial boards of eleven academic journals, including American Journal of Human Genetics, Mammalian Genome, Clinical Genetics (journal), and Genome Research.

Patents

6824972. Diagnosis and treatment of medical conditions associated with defective NFkappa B (NF-κB) activation. [28]

6107025. Diagnosis of the fragile X syndrome. [29]

Awards and honors

Related Research Articles

<span class="mw-page-title-main">Fragile X syndrome</span> X-linked dominant genetic disorder

Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females.

Repeated sequences are short or long patterns of nucleic acids that occur in multiple copies throughout the genome. In many organisms, a significant fraction of the genomic DNA is repetitive, with over two-thirds of the sequence consisting of repetitive elements in humans. Some of these repeated sequences are necessary for maintaining important genome structures such as telomeres or centromeres.

<span class="mw-page-title-main">Incontinentia pigmenti</span> Rare X-linked dominant genetic disorder

Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.

<span class="mw-page-title-main">Chromosomal fragile site</span> Cytogenetic feature

A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress. Based on their frequency, fragile sites are classified as "common" or "rare". To date, more than 120 fragile sites have been identified in the human genome.

<span class="mw-page-title-main">FMR1</span> Human protein and coding gene

FMR1 is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's disease, developmental delays and other cognitive deficits. The FMR1 premutation is associated with a wide spectrum of clinical phenotypes that affect more than two million people worldwide.

A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. These are labelled in dynamical genetics as dynamic mutations. Triplet expansion is caused by slippage during DNA replication, also known as "copy choice" DNA replication. Due to the repetitive nature of the DNA sequence in these regions, 'loop out' structures may form during DNA replication while maintaining complementary base pairing between the parent strand and daughter strand being synthesized. If the loop out structure is formed from the sequence on the daughter strand this will result in an increase in the number of repeats. However, if the loop out structure is formed on the parent strand, a decrease in the number of repeats occurs. It appears that expansion of these repeats is more common than reduction. Generally, the larger the expansion the more likely they are to cause disease or increase the severity of disease. Other proposed mechanisms for expansion and reduction involve the interaction of RNA and DNA molecules.

<span class="mw-page-title-main">IKBKG</span> Protein-coding gene in the species Homo sapiens

NF-kappa-B essential modulator (NEMO) also known as inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK-γ) is a protein that in humans is encoded by the IKBKG gene. NEMO is a subunit of the IκB kinase complex that activates NF-κB. The human gene for IKBKG is located on the chromosome band Xq28. Multiple transcript variants encoding different isoforms have been found for this gene.

<span class="mw-page-title-main">Photoreceptor cell-specific nuclear receptor</span> Protein-coding gene in the species Homo sapiens

The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3, is a protein that in humans is encoded by the NR2E3 gene. PNR is a member of the nuclear receptor super family of intracellular transcription factors.

<span class="mw-page-title-main">FXR1</span> Protein-coding gene in the species Homo sapiens

Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene.

<span class="mw-page-title-main">FXR2</span> Protein-coding gene in the species Homo sapiens

Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene.

<span class="mw-page-title-main">AFF2</span> Protein-coding gene in humans

AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene. Mutations in AFF2 are implicated in cases of breast cancer.

<span class="mw-page-title-main">PHF10</span> Protein-coding gene

PHD finger protein 10 is a protein that in humans is encoded by the PHF10 gene.

<span class="mw-page-title-main">CNTNAP2</span> Protein-coding gene in humans

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome

<span class="mw-page-title-main">CGGBP1</span> Protein-coding gene in the species Homo sapiens

CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.

<span class="mw-page-title-main">Fragile X-associated tremor/ataxia syndrome</span>

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor. Associated features include parkinsonism, cognitive decline, and dysfunction of the autonomic nervous system. FXTAS is found in Fragile X "premutation" carriers, which is defined as a trinucleotide repeat expansion of 55-200 CGG repeats in the Fragile X mental retardation-1 (FMR1) gene. 4-40 CGG repeats in this gene is considered normal, while individual with >200 repeats have full Fragile X Syndrome.

<span class="mw-page-title-main">FMR1-AS1 gene</span> Non-coding RNA in the species Homo sapiens

In molecular biology, FMR1 antisense RNA 1 (FMR1-AS1), also known as ASFMR1 or FMR4, is a long non-coding RNA. The FMR1-AS1 gene overlaps, and is antisense to, the CGG repeat region of the FMR1 gene. Its expression is upregulated in fragile X syndrome premutation carriers, and silenced in patients with fragile X syndrome. FMR1-AS1 has an anti-apoptotic function.

Fragile X-associated Primary Ovarian Insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46, XX. The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. About 1:150-1:200 women in the US population carry a premutation. Women who carry an FMR1 premutation have a roughly 20% risk of being diagnosed with FXPOI, compared to 1% for the general population, and an 8-15% risk of developing the neurogenerative tremor/ataxia disorder (FXTAS). FMR1 premutation women are also at increased risk of having a child with a CGG repeat that is expanded to >200 repeats. Individuals with a full mutation, unlike the premutation, produce little to no mRNA or protein from the FMR1 gene and are affected with Fragile X syndrome.

Nagwa Abdel Meguid is an Egyptian geneticist and 2002 winner of the L’Oreal UNESCO Award for Women in Science for Africa and the Middle East. Her research has "identified several genetic mutations that cause common syndromes such as the fragile X syndrome and Autism".

RNA-dominant diseases are characterized by deleterious mutations that typically result in degenerative disorders affecting various neurological, cardiovascular, and muscular functions. Studies have found that they arise from repetitive non-coding RNA sequences, also known as toxic RNA, which inhibit RNA-binding proteins leading to pathogenic effects. The most studied RNA-dominant diseases include, but are not limited to, myotonic dystrophy and fragile X-associated tremor/ataxia syndrome (FXTAS).

Stephen T. Warren was an American geneticist and academic. He was the William Patterson Timmie Professor of Human Genetics and the Charles Howard Candler Chair of Human Genetics. He was the former Founding Chairman of the Department of Human Genetics at Emory University School of Medicine. He was an Investigator with the Howard Hughes Medical Institute from 1991 until 2002, when he resigned to found the Human Genetics department. Warren is well known for his work in the field of Human Genetics. His research was focused on the mechanistic understanding of fragile X syndrome, a leading cause of inherited developmental disability and autism. In 2020, Warren stepped down as department chair after 20 years in that position.

References

  1. ↑ "David L Nelson - Google Scholar Citations". scholar.google.com.
  2. ↑ "My Bibliography - My NCBI Collection". ncbi.nlm.nih.gov. Retrieved 2019-06-26.
  3. ↑ "Issue: The American Journal of Human Genetics". www.cell.com.
  4. 1 2 Nelson, D. L.; Ledbetter, S. A.; Corbo, L.; Victoria, M. F.; Ramirez-Solis, R.; Webster, T. D.; Ledbetter, D. H.; Caskey, C. T. (1 September 1989). "Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources". Proceedings of the National Academy of Sciences. 86 (17): 6686–6690. Bibcode:1989PNAS...86.6686N. doi: 10.1073/pnas.86.17.6686 . PMC   297910 . PMID   2771952.
  5. 1 2 Verkerk, Annemieke J.M.H.; Pieretti, Maura; Sutcliffe, James S.; Fu, Ying-Hui; Kuhl, Derek P.A.; Pizzuti, Antonio; Reiner, Orly; Richards, Stephen; Victoria, Maureen F.; Zhang, Fuping; Eussen, Bert E.; van Ommen, Gert-Jan B.; Blonden, Lau A.J.; Riggins, Gregory J.; Chastain, Jane L.; Kunst, Catherine B.; Galjaard, Hans; Thomas Caskey, C.; Nelson, David L.; Oostra, Ben A.; Warren, Stephen T. (May 1991). "Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome". Cell. 65 (5): 905–914. doi:10.1016/0092-8674(91)90397-H. PMID   1710175. S2CID   21463845.
  6. ↑ Attree, Olivier; Olivos, Isabelle M.; Okabe, Ichiro; Bailey, L. Charles; Nelson, David L.; Lewis, Richard A.; Mclnnes, Roderick R.; Nussbaum, Robert L. (July 1992). "The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase". Nature. 358 (6383): 239–242. Bibcode:1992Natur.358..239A. doi:10.1038/358239a0. PMID   1321346. S2CID   4246631.
  7. ↑ Gu, Yanghong; Shen, Ying; Gibbs, Richard A.; Nelson, David L. (May 1996). "Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island". Nature Genetics. 13 (1): 109–113. doi:10.1038/ng0596-109. PMID   8673086. S2CID   6781698.
  8. ↑ Adams, Mark D., George L. Gabor Miklos, Angela Center, Robert D. C. Saunders, Susan E. Celniker, Robert A. Holt, Cheryl A. Evans, et al. 2000. "The Genome Sequence of Drosophila melanogaster". Science. 287 (5461): 2185–2195. DOI: https://doi.org/10.1126/science.287.5461.2185
  9. ↑ Lander, Eric S.; Linton, Lauren M.; Birren, Bruce; Nusbaum, Chad; Zody, Michael C.; Baldwin, Jennifer; Devon, Keri; Dewar, Ken; Doyle, Michael; Fitzhugh, William; Funke, Roel; Gage, Diane; Harris, Katrina; Heaford, Andrew; Howland, John; Kann, Lisa; Lehoczky, Jessica; Levine, Rosie; McEwan, Paul; McKernan, Kevin; Meldrim, James; Mesirov, Jill P.; Miranda, Cher; Morris, William; Naylor, Jerome; Raymond, Christina; Rosetti, Mark; Santos, Ralph; Sheridan, Andrew; et al. (February 2001). "Initial sequencing and analysis of the human genome". Nature. 409 (6822): 860–921. Bibcode:2001Natur.409..860L. doi: 10.1038/35057062 . hdl: 2027.42/62798 . PMID   11237011.
  10. ↑ Ross, Mark T.; Grafham, Darren V.; Coffey, Alison J.; Scherer, Steven; McLay, Kirsten; Muzny, Donna; Platzer, Matthias; Howell, Gareth R.; Burrows, Christine; Bird, Christine P.; Frankish, Adam; Lovell, Frances L.; Howe, Kevin L.; Ashurst, Jennifer L.; Fulton, Robert S.; Sudbrak, Ralf; Wen, Gaiping; Jones, Matthew C.; Hurles, Matthew E.; Andrews, T. Daniel; Scott, Carol E.; Searle, Stephen; Ramser, Juliane; Whittaker, Adam; Deadman, Rebecca; Carter, Nigel P.; Hunt, Sarah E.; Chen, Rui; Cree, Andrew; et al. (March 2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–337. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC   2665286 . PMID   15772651.
  11. ↑ Julia E. Parrish, Angela E. Scheuerle, Richard A. Lewis, Moise L. Levy, David L. Nelson (1996). Selection Against Mutant Alleles in Blood Leukocytes is a Consistent Feature in Incontinentia Pigmenti Type 2. Human Molecular Genetics, 5 (11):1777–1783. DOI: https://doi.org/10.1093/hmg/5.11.1777
  12. ↑ Smahi, Asmae; Courtois, G.; Vabres, P.; Yamaoka, S.; Heuertz, S.; Munnich, A.; Israël, A.; Heiss, Nina S.; Klauck, S. M.; Kioschis, P.; Wiemann, S.; Poustka, A.; Esposito, Teresa; Bardaro, T.; Gianfrancesco, F.; Ciccodicola, A.; d'Urso, M.; Woffendin, Hayley; Jakins, T.; Donnai, D.; Stewart, H.; Kenwrick, S. J.; Aradhya, Swaroop; Yamagata, T.; Levy, M.; Lewis, R. A.; Nelson, D. L. (May 2000). "Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti". Nature. 405 (6785): 466–472. Bibcode:2000Natur.405..466T. doi:10.1038/35013114. PMID   10839543. S2CID   4416325.
  13. ↑ Aradhya, S. (1 September 2001). "A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations". Human Molecular Genetics. 10 (19): 2171–2179. doi: 10.1093/hmg/10.19.2171 . PMID   11590134.
  14. ↑ Swaroop Aradhya, Hayley Woffendin, Tracy Jakins, Tiziana Bardaro, Teresa Esposito, Asmae Smahi, Christine Shaw, Moise Levy, Arnold Munnich, Michele D’Urso, Richard A. Lewis, Sue Kenwrick, David L. Nelson (2001). A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations, Human Molecular Genetics. 10(19):2171–2179, https://doi.org/10.1093/hmg/10.19.2171
  15. ↑ Swaroop Aradhya, Tiziana Bardaro, Petra Galgóczy, Takanori Yamagata, Teresa Esposito, Henry Patlan, Alfredo Ciccodicola, Arnold Munnich, Sue Kenwrick, Matthias Platzer, Michele D’Urso, David L. Nelson (2001). Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Human Molecular Genetics 10(22):2557–2567. DOI: https://doi.org/10.1093/hmg/10.22.2557
  16. ↑ Pieretti, Maura; Zhang, Fuping; Fu, Ying-Hui; Warren, Stephen T.; Oostra, Ben A.; Caskey, C.Thomas; Nelson, David L. (August 1991). "Absence of expression of the FMR-1 gene in fragile X syndrome". Cell. 66 (4): 817–822. doi:10.1016/0092-8674(91)90125-I. PMID   1878973. S2CID   31455523.
  17. ↑ Fu, Ying-Hui; Kuhl, Derek P.A.; Pizzuti, Antonio; Pieretti, Maura; Sutcliffe, James S.; Richards, Stephen; Verkert, Annemieke J.M.H.; Holden, Jeanette J.A.; Fenwick, Raymond G.; Warren, Stephen T.; Oostra, Ben A.; Nelson, David L.; Caskey, C.Thomas (December 1991). "Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox". Cell. 67 (6): 1047–1058. doi:10.1016/0092-8674(91)90283-5. PMID   1760838. S2CID   21970859.
  18. ↑ Eichler, Evan E.; Holden, Jeanette J.A.; Popovich, Bradley W.; Reiss, Allan L.; Snow, Karen; Thibodeau, Stephen N.; Richards, C. Sue; Ward, Patricia A.; Nelson, David L. (September 1994). "Length of uninterrupted CGG repeats determines instability in the FMR1 gene". Nature Genetics. 8 (1): 88–94. doi:10.1038/ng0994-88. PMID   7987398. S2CID   20075057.
  19. ↑ Jin, Peng; Zarnescu, Daniela C; Ceman, Stephanie; Nakamoto, Mika; Mowrey, Julie; Jongens, Thomas A; Nelson, David L; Moses, Kevin; Warren, Stephen T (4 January 2004). "Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway". Nature Neuroscience. 7 (2): 113–117. doi:10.1038/nn1174. PMID   14703574. S2CID   1146182.
  20. ↑ Zhang, Jing; Fang, Zhe; Jud, Corinne; Vansteensel, Mariska J.; Kaasik, Krista; Lee, Cheng Chi; Albrecht, Urs; Tamanini, Filippo; Meijer, Johanna H.; Oostra, Ben A.; Nelson, David L. (July 2008). "Fragile X-Related Proteins Regulate Mammalian Circadian Behavioral Rhythms". The American Journal of Human Genetics. 83 (1): 43–52. doi:10.1016/j.ajhg.2008.06.003. PMC   2443847 . PMID   18589395.
  21. ↑ Guo, Weixiang; Allan, Andrea M; Zong, Ruiting; Zhang, Li; Johnson, Eric B; Schaller, Eric G; Murthy, Adeline C; Goggin, Samantha L; Eisch, Amelia J; Oostra, Ben A; Nelson, David L; Jin, Peng; Zhao, Xinyu (24 April 2011). "Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning". Nature Medicine. 17 (5): 559–565. doi:10.1038/nm.2336. PMC   3140952 . PMID   21516088.
  22. ↑ Lumaban, J. G.; Nelson, D. L. (30 December 2014). "The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice". Human Molecular Genetics. 24 (8): 2175–2184. doi:10.1093/hmg/ddu737. PMC   4380067 . PMID   25552647.
  23. ↑ Higashimori, H.; Schin, C. S.; Chiang, M. S. R.; Morel, L.; Shoneye, T. A.; Nelson, D. L.; Yang, Y. (6 July 2016). "Selective Deletion of Astroglial FMRP Dysregulates Glutamate Transporter GLT1 and Contributes to Fragile X Syndrome Phenotypes In Vivo". Journal of Neuroscience. 36 (27): 7079–7094. doi:10.1523/JNEUROSCI.1069-16.2016. PMC   4938857 . PMID   27383586.
  24. ↑ Sofola, Oyinkan A.; Jin, Peng; Qin, Yunlong; Duan, Ranhui; Liu, Huijie; de Haro, Maria; Nelson, David L.; Botas, Juan (August 2007). "RNA-Binding Proteins hnRNP A2/B1 and CUGBP1 Suppress Fragile X CGG Premutation Repeat-Induced Neurodegeneration in a Drosophila Model of FXTAS". Neuron. 55 (4): 565–571. doi:10.1016/j.neuron.2007.07.021. PMC   2215388 . PMID   17698010.
  25. ↑ Nelson, David L.; Paylor, Richard; Oostra, Ben A.; Willemsen, Rob; Mori, Mayra; Galloway, Jocelyn N.; Hashem, Vera (1 July 2009). "Ectopic expression of CGG containing mRNA is neurotoxic in mammals". Human Molecular Genetics. 18 (13): 2443–2451. doi: 10.1093/hmg/ddp182 . ISSN   0964-6906. PMC   2694692 . PMID   19377084.
  26. ↑ Yao, Bing; Lin, Li; Street, R. Craig; Zalewski, Zachary A.; Galloway, Jocelyn N.; Wu, Hao; Nelson, David L.; Jin, Peng (15 February 2014). "Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome". Human Molecular Genetics. 23 (4): 1095–1107. doi: 10.1093/hmg/ddt504 . PMC   3900112 . PMID   24108107.
  27. ↑ Galloway, Jocelyn N.; Shaw, Chad; Yu, Peng; Parghi, Deena; Poidevin, Mickael; Jin, Peng; Nelson, David L. (15 November 2014). "CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome". Human Molecular Genetics. 23 (22): 5906–5915. doi: 10.1093/hmg/ddu314 . PMC   4204772 . PMID   24986919.
  28. ↑ Kenwrick, Sue J.; Woffendin, Hayley; Munnich, Arnold; Smahi, Asmae; Israel, Alain; Poustka, Annemarie; Heiss, Nina; D'Urso, Michele; Lewis, Richard A.; Nelson, David L.; Aradhya, Swaroop; Levy, Moise (2004). "United States Patent: 6824972 - Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF-.kappa.B) activation".
  29. ↑ Caskey, C. Thomas; Nelson, David L.; Pieretti, Maura; Warren, Stephen T.; Oostra, Ben A. (2000). "United States Patent: 6107025 - Diagnosis of the fragile X syndrome".
  30. ↑ http://www.texasgeneticssociety.org/wp-content/uploads/2019/04/Barabara-Bowman-Award-Recipients.pdf [ bare URL PDF ]
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