Search Results - "Dang Do, An N"

CLN3 is required for the clearance of glycerophosphodiesters from lysosomes by Laqtom, Nouf N., Dong, Wentao, Medoh, Uche N., Cangelosi, Andrew L., Dharamdasani, Vimisha, Chan, Sze Ham, Kunchok, Tenzin, Lewis, Caroline A., Heinze, Ivonne, Tang, Rachel, Grimm, Christian, Dang Do, An N., Porter, Forbes D., Ori, Alessandro, Sabatini, David M., Abu-Remaileh, Monther

“…Lysosomes have many roles, including degrading macromolecules and signalling to the nucleus 1 . Lysosomal dysfunction occurs in various human conditions, such…”
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Use of the Vineland‐3, a measure of adaptive functioning, in CLN3 by Dang Do, An N., Thurm, Audrey E., Farmer, Cristan A., Soldatos, Ariane G., Chlebowski, Colby E., O'Reilly, Julie K., Porter, Forbes D.

“…Progressive vision loss and neurocognitive impairment are early and frequent presentations in CLN3 disease. This highlights neurodevelopmental functioning as…”
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Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions by Dwojak, Ewelina, O’Mard, Danielle, Zou, Jizhong, Wassif, Christopher A., Burkett, Sandra, Eckhaus, Michael, Rueda Faucz, Fabio, Padilla, Cameron, Villasmil, Rafael, Zheng, Wei, Dang Do, An N.

“…Primary fibroblasts from six individuals with CLN3-related conditions were used to generate induced pluripotent stem cell (iPSC) lines CHDTRi001-B,…”
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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation by Dang Do, An N., Chang, Irene J., Jiang, Xutian, Wolfe, Lynne A., Ng, Bobby G., Lam, Christina, Schnur, Rhonda E., Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D., Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y., Wolfenson, Zoe, Perreault, John, Ory, Daniel S., Freeze, Hudson H., Merritt, J. Lawrence, Porter, Forbes D.

“…Congenital disorders of glycosylation (CDG) and Niemann‐Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile‐onset…”
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Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome by Dang Do, An N., Baker, Eva H., Warren, Katherine E., Bianconi, Simona E., Porter, Forbes D.

“…Smith–Lemli–Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ…”
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Research and publication trends in hospital medicine by Do, An N. Dang, Munchhof, Amy M., Terry, Colin, Emmett, Thomas, Kara, Areeba

“…BACKGROUND Research by hospitalists may aid the evolution of hospital medicine into an academic specialty. OBJECTIVE To describe the factors associated with…”
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Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen by Barber, Lauren A., Abbott, Craig, Nakhate, Vihang, Do, An N. Dang, Blissett, Angela R., Marini, Joan C.

“…Purpose Growth deficiency is a cardinal feature of osteogenesis imperfecta (OI) types III and IV, caused by pathogenic variants in type I collagen. OI-specific…”
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Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure by Ballenger, Kaitlin L, Tugarinov, Nicol, Talvacchio, Sara K, Knue, Marianne M, Dang Do, An N, Ahlman, Mark A, Reynolds, James C, Yanovski, Jack A, Marini, Joan C

“…Mutations in type I collagen or collagen-related proteins cause osteogenesis imperfecta (OI). Energy expenditure and body composition in OI could reflect…”
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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3 by Dang Do, An N., Sleat, David E., Campbell, Kiersten, Johnson, Nicholas L., Zheng, Haiyan, Wassif, Christopher A., Dale, Ryan K., Porter, Forbes D.

“…Syndromic CLN3-Batten is a fatal, pediatric, neurodegenerative disease caused by variants in CLN3, which encodes the endolysosomal transmembrane CLN3 protein…”
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Neurofilament light chain levels correlate with clinical measures in CLN3 disease by Dang Do, An N., Sinaii, Ninet, Masvekar, Ruturaj R., Baker, Eva H., Thurm, Audrey E., Soldatos, Ariane G., Bianconi, Simona E., Bielekova, Bibiana, Porter, Forbes D.

“…CLN3 disease is a neurodegenerative disorder with onset in childhood. It affects multiple functions at different developmental stages. Incomplete understanding…”
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Brain proton MR spectroscopy measurements in CLN3 disease by Dang Do, An N., Baker, Eva H., Farmer, Cristan A., Soldatos, Ariane G., Thurm, Audrey E., Porter, Forbes D.

“…CLN3 is an autosomal recessive lysosomal disorder with intracellular accumulation of ceroid-lipofuscins. CLN3 classically has onset around 4–6 years of age…”
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Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures by Abdennadher, Myriam, Inati, Sara, Soldatos, Ariane, Norato, Gina, Baker, Eva H., Thurm, Audrey, Bartolini, Luca, Masvekar, Ruturaj, Theodore, William, Bielekova, Bibiana, Porter, Forbes D., Dang Do, An N.

“…CLN3 disease is a pediatric neurodegenerative condition wherein seizures are common. The most common disease‐causing variant is an ~1‐kb deletion in CLN3. We…”
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Characterizing upper limb function in the context of activities of daily living in CLN3 disease by Hildenbrand, Hanna, Wickstrom, Jordan, Parks, Rebecca, Zampieri, Cris, Nguyen, Thuy‐Tien, Thurm, Audrey, Jenkins, Kisha, Alter, Katharine E., Matsubara, Jesse, Hammond, Dylan, Soldatos, Ariane, Porter, Forbes D., Dang Do, An N.

“…In CLN3 disease, impairments in motor function are frequently reported to have later onset compared to visual and cognitive decline, but upper limb motor…”
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eIF2α kinases GCN2 and PERK modulate transcription and translation of distinct sets of mRNAs in mouse liver by Dang Do, An N., Kimball, Scot R., Cavener, Douglas R., Jefferson, Leonard S.

“…In eukaryotes, selective derepression of mRNA translation through altered utilization of upstream open reading frames (uORF) or internal ribosomal entry sites…”
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Glycerophosphoinositol is Elevated in Blood Samples From CLN3Δex7-8 pigs, Cln3Δex7-8 Mice, and CLN3-Affected Individuals by Brudvig, Jon J, Swier, Vicki J, Johnson, Tyler B, Cain, Jacob C, Pratt, Melissa, Rechtzigel, Mitch, Leppert, Hannah, Dang Do, An N, Porter, Forbes D, Weimer, Jill M

“…Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite…”
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Stress Shielding in the Setting of Osteogenesis Imperfecta and the Effect of Downsizing an Intramedullary Rod: A Case Report by Franzone, Jeanne M., Sargent, Brandi M., Dang Do, An N., Knue, Marianne, Marini, Joan C., Kruse, Richard W.

“…Cortical atrophy, or stress shielding, secondary to a large-diameter femoral intramedullary rod was noted over almost a decade in a now 14-year-old girl with…”
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Correlation of cleavage of SNAP-25 with muscle function in a rat model of Botulinum neurotoxin type A induced paralysis by Jurasinski, Christine V., Lieth, Erich, Dang Do, An N., Schengrund, Cara-Lynne

“…Injection of botulinum neurotoxin serotype A (BoNT/A) into muscle results in cleavage of the synaptosomal associated protein of 25 kDa (SNAP-25) and relatively…”
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Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis by Luckett, Amelia, Yousef, Muhammad, Tifft, Cynthia, Jenkins, Kisha, Smith, Andrew, Munoz, Andrea, Quimby, Rachel, Porter, Forbes D., Dang Do, An Ngoc

“…Natural history studies of pediatric rare neurometabolic diseases are important to understand disease pathophysiology and to inform clinical trial outcome…”
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Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals by Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer

“…Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite…”
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Rapid Turnover of the mTOR Complex 1 (mTORC1) Repressor REDD1 and Activation of mTORC1 Signaling following Inhibition of Protein Synthesis by Kimball, Scot R., Do, A. N. Dang, Kutzler, Lydia, Cavener, Douglas R., Jefferson, Leonard S.

“…mTORC1 is a complex of proteins that includes the mammalian target of rapamycin (mTOR) and several regulatory proteins. It is activated by a variety of…”
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