Try a new search

Format these results:

Searched for:

person:bz381

in-biosketch:yes

Total Results:

4


Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

Šušnjar, Urša; Škrabar, Neva; Brown, Anna-Leigh; Abbassi, Yasmine; Phatnani, Hemali; Cortese, Andrea; Cereda, Cristina; Bugiardini, Enrico; Cardani, Rosanna; Meola, Giovanni; Ripolone, Michela; Moggio, Maurizio; Romano, Maurizio; Secrier, Maria; Fratta, Pietro; Buratti, Emanuele; Phatnani, H; Fratta, P; Kwan, J; Sareen, D; Broach, J R; Simmons, Z; Arcila-Londono, X; Lee, E B; Van Deerlin, V M; Shneider, N A; Fraenkel, E; Ostrow, L W; Baas, F; Berry, J D; Butovsky, O; Baloh, R H; Shalem, Ophir; Heiman-Patterson, T; Stefanis, L; Chandran, S; Pal, S; Smith, C; Malaspina, A; Hammell, M G; Patsopoulos, N A; Dubnau, J; Poss, M; Zhang, B; Zaitlen, N; Hornstein, E; Miller, T M; Dardiotis, E; Bowser, R; Menon, V; Harms, M; Atassi, N; Lange, D J; MacGowan, D J; McMillan, C; Aronica, E; Harris, B; Ravits, J; Crary, J; Thompson, L M; Raj, T; Paganoni, S; Adams, D J; Babu, S; Drory, V; Gotkine, M; Broce, I; Phillips-Cremins, J; Nath, A; Finkbeiner, S; Cox, G A
TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle of inclusion body myositis patients, this highlights the need to understand the role of TDP-43 beyond the central nervous system. Using RNA-seq, we directly compare TDP-43-mediated RNA processing in muscle (C2C12) and neuronal (NSC34) mouse cells. TDP-43 displays a cell-type-characteristic behaviour targeting unique transcripts in each cell-type, which is due to characteristic expression of RNA-binding proteins, that influence TDP-43's performance and define cell-type specific splicing. Among splicing events commonly dysregulated in both cell lines, we identify some that are TDP-43-dependent also in human cells. Inclusion levels of these alternative exons are altered in tissues of patients suffering from FTLD and IBM. We therefore propose that TDP-43 dysfunction contributes to disease development either in a common or a tissue-specific manner.
PMCID:8983780
PMID: 35383280
ISSN: 2399-3642
CID: 5428732

Clinical dilemma of DKA and Covid-19 infection: A case report [Case Report]

Gianniosis, Margarita; Zhang, Billy; Choe, Michael
A 52-year-old man with no significant past medical history was found to have diabetic ketoacidosis (DKA) in the setting of COVID-19 infection. He presented with hyperglycemia and an anion gap metabolic acidosis, but without a clear infectious precipitant. Inflammatory markers were subsequently checked, and found to be significantly elevated, raising the suspicion for COVID-19 as a possible etiology despite the lack of typical symptoms - a rapid COVID-19 PCR test checked afterwards was found to be positive. The patient's hospital course was uncomplicated, but the case highlights the possibility of COVID-19 serving as an infectious precipitant for DKA, even when a patient is otherwise asymptomatic in terms of having COVID-19.
PMCID:7443161
PMID: 32864339
ISSN: 2214-2509
CID: 5085502

Alpha-gal antibody due to Lone Star tick bite, a unique case of allergic reaction [Case Report]

Zhang, Billy; Hauk, Michael; Clyne, James
PMCID:7452663
PMID: 32904381
ISSN: 2214-2509
CID: 5085512

Neonatal melanocortin receptor agonist treatment reduces play fighting and promotes adult attachment in prairie voles in a sex-dependent manner

Barrett, Catherine E; Modi, Meera E; Zhang, Billy C; Walum, Hasse; Inoue, Kiyoshi; Young, Larry J
The melanocortin receptor (MCR) system has been studied extensively for its role in feeding and sexual behavior, but effects on social behavior have received little attention. α-MSH interacts with neural systems involved in sociality, including oxytocin, dopamine, and opioid systems. Acute melanotan-II (MTII), an MC3/4R agonist, potentiates brain oxytocin (OT) release and facilitates OT-dependent partner preference formation in socially monogamous prairie voles. Here we examined the long-term impact of early-life MCR stimulation on hypothalamic neuronal activity and social development in prairie voles. Male and female voles were given daily subcutaneous injections of 10 mg/kg MTII or saline between postnatal days (PND) 1-7. Neonatally-treated males displayed a reduction in initiated play fighting bouts as juveniles compared to control males. Neonatal exposure to MTII facilitated partner preference formation in adult females, but not males, after a brief cohabitation with an opposite-sex partner. Acute MTII injection elicited a significant burst of the immediate early gene EGR-1 immunoreactivity in hypothalamic OT, vasopressin, and corticotrophin releasing factor neurons, when tested in PND 6-7 animals. Daily neonatal treatment with 1 mg/kg of a more selective, brain penetrant MC4R agonist, PF44687, promoted adult partner preferences in both females and males compared with vehicle controls. Thus, developmental exposure to MCR agonists lead to a persistent change in social behavior, suggestive of structural or functional changes in the neural circuits involved in the formation of social relationships.
PMCID:4158739
PMID: 24923239
ISSN: 1873-7064
CID: 5085492