The molecular basis for cellular function of intrinsically disordered protein regions
Intrinsically disordered protein regions exist in a collection of dynamic interconverting
conformations that lack a stable 3D structure. These regions are structurally heterogeneous …
conformations that lack a stable 3D structure. These regions are structurally heterogeneous …
Spatial proteomics: a powerful discovery tool for cell biology
Protein subcellular localization is tightly controlled and intimately linked to protein function in
health and disease. Capturing the spatial proteome—that is, the localizations of proteins and …
health and disease. Capturing the spatial proteome—that is, the localizations of proteins and …
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
Evolutionary origins and interactomes of human, young microproteins and small peptides translated from short open reading frames
All species continuously evolve short open reading frames (sORFs) that can be templated
for protein synthesis and may provide raw materials for evolutionary adaptation. We …
for protein synthesis and may provide raw materials for evolutionary adaptation. We …
DHHC9-mediated GLUT1 S-palmitoylation promotes glioblastoma glycolysis and tumorigenesis
Z Zhang, X Li, F Yang, C Chen, P Liu, Y Ren… - Nature …, 2021 - nature.com
Glucose transporter GLUT1 is a transmembrane protein responsible for the uptake of
glucose into the cells of many tissues through facilitative diffusion. Plasma membrane (PM) …
glucose into the cells of many tissues through facilitative diffusion. Plasma membrane (PM) …
Diverse molecular mechanisms underlying pathogenic protein mutations: beyond the loss-of-function paradigm
L Backwell, JA Marsh - Annual review of genomics and human …, 2022 - annualreviews.org
Most known disease-causing mutations occur in protein-coding regions of DNA. While some
of these involve a loss of protein function (eg, through premature stop codons or missense …
of these involve a loss of protein function (eg, through premature stop codons or missense …
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
J Klepper, C Akman, M Armeno, S Auvin… - Epilepsia …, 2020 - Wiley Online Library
Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired
glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is …
glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is …
Intrinsically disordered proteins: an overview
Many proteins and protein segments cannot attain a single stable three-dimensional
structure under physiological conditions; instead, they adopt multiple interconverting …
structure under physiological conditions; instead, they adopt multiple interconverting …
Interaction modules that impart specificity to disordered protein
Intrinsically disordered regions (IDRs) are especially enriched among proteins that regulate
chromatin and transcription. As a result, mechanisms that influence specificity of IDR-driven …
chromatin and transcription. As a result, mechanisms that influence specificity of IDR-driven …
[HTML][HTML] Unblending of transcriptional condensates in human repeat expansion disease
Expansions of amino acid repeats occur in> 20 inherited human disorders, and many occur
in intrinsically disordered regions (IDRs) of transcription factors (TFs). Such diseases are …
in intrinsically disordered regions (IDRs) of transcription factors (TFs). Such diseases are …