Results 141 to 150 of about 1,423,917 (266)

Caregiver quality of life and burden in rare genetic diseases in South Korea. [PDF]

Medicine (Baltimore)
Choi S, Kim JH, Kim GH, Lee BH, Choi IH.
europepmc   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Cost analysis of hospitalized children suspected of rare genetic diseases. [PDF]

Orphanet J Rare Dis
Kouame JM, LaRue S, Varin-Tremblay C, Michaud JL, Laberge AM, Guertin JR.   +5 more
europepmc   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

A protein interactome for the last eukaryotic common ancestor illuminates the biochemical basis of modern genetic diseases. [PDF]

Cell Genom
Cox RM, Papoulas O, Shril S, Lee C, Gardner TP, Ansari ZT, Battenhouse AM, Lee M, Drew K, McWhite CD, Yang D, Leggere JC, Durand D, Hildebrandt F, Wallingford JB, Marcotte EM.   +15 more
europepmc   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Nanoparticle-mediated mRNA delivery for cancer, autoimmunity, and genetic diseases: a rapid review. [PDF]

Front Drug Deliv
Ugwu OP, Ogenyi FC, Basajja M, Ugwu CN, Mustafa MM, Okon MB.   +5 more
europepmc   +1 more source

Phosphoinositides and inositol phosphates as molecular glues

FEBS Letters, EarlyView.
Inositol phosphates (IPs) and phosphoinositides (PIPs) regulate diverse eukaryotic processes. Beyond recruiting signaling proteins or acting as structural cofactors, recent studies suggest they mediate protein–protein interactions as natural molecular glues.
Aleshia Seaton‐Terry, Alexander J. Cutright, Mong Na Claire Loi, Jessica Martin, Joseph W. Gilligan, Jakub N. Kubina, Michael J. Arambula, Susanna Tanada Palmu, Daniella Zhou, Raymond D. Blind   +9 more
wiley   +1 more source

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population. [PDF]

Int J Mol Sci
Tabassum I, Shafique M, Akhtar MS.
europepmc   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source