Results 181 to 190 of about 5,995,584 (403)

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

Science, 2014
S. Mizielinska, Sebastian Grönke, T. Niccoli, Charlotte E. Ridler, E. Clayton, A. Devoy, T. Moens, F. Norona, I. Woollacott, J. Pietrzyk, K. Cleverley, Andrew J. Nicoll, S. Pickering-Brown, Jacqueline Dols, M. Cabecinha, Oliver Hendrich, P. Fratta, E. Fisher, L. Partridge, A. Isaacs   +19 more
semanticscholar   +1 more source

Pss knockdown in the midgut causes growth retardation in Drosophila similar to that in human LMHD

Developmental Dynamics, EarlyView.
Abstract Background Phosphatidylserine synthase (PSS), localized in the mitochondrial membrane, synthesizes phosphatidylserine. In humans, mutations in Pss lead to Lenz–Majewski hyperostotic dwarfism, a disorder affecting growth and development. The effects of Pss mutations on the growth of Drosophila melanogaster are not fully known. Hence, this study
Kwan‐Young Kim, You‐Lim Hwang, Sunwoo Yeom, Seung‐Hae Kwon, Sang‐Hak Jeon   +4 more
wiley   +1 more source

Immunological evidence for a relationship between the dendrotoxin‐binding protein and the mammalian homologue of the Drosophila Shaker K⁺ channel [PDF]

, 1989
Hubert Rehm, Richard Newitt, Bruce L. Tempel   +2 more
openalex   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, EarlyView.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels

Neurobiology of Disease, 2017
The neuronal ceroid lipofuscinoses are a group of recessively inherited, childhood-onset neurodegenerative conditions. Several forms are caused by mutations in genes encoding putative lysosomal membrane proteins.
Alamin Mohammed, Megan B. O'Hare, Alice Warley, Guy Tear, Richard I. Tuxworth   +4 more
doaj  

Organization of the multiple genes for the 70,000-dalton heat-shock protein in Drosophila melanogaster.

, 1979
Marc-Édouard Mirault, Michel Goldschmidt‐Clermont, S Artavanis-Tsakonas, Paul Schedl   +3 more
openalex   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Nuclear proteins fromDrosophila melanogasterembryos which specifically bind to simple homopolymeric sequences poly [(dT-dG).(dC-dA)]

, 1988
Р. П. Вашакидзе, M. G. Chelidze, Nino Mamulashvili, K. G. Kalandarishvili, N. V. Tsalkalamanidze   +4 more
openalex   +2 more sources

Identification of the binding sites for potential regulatory proteins in the upstream enhancer element of theDrosophila fushi tarazugene [PDF]

, 1988
Stephen D. Harrison, Andrew Travers
openalex   +1 more source