Results 171 to 180 of about 22,029 (242)

Consensus definition for developmental regression during childhood

Developmental Medicine &Child Neurology, EarlyView.
In this study, 41 expert interdisciplinary clinicians participated in two rounds of a Delphi survey to reach a consensus agreement on the developmental domains and duration of regression. Reaching an agreed working definition is a crucial first step towards the earlier and consistent identification of children experiencing developmental regression ...
Gauravi Gawade, Ellaina P Andersson, Ava Nielsen, Katrina Williams, Kirsten Furley   +4 more
wiley   +1 more source

Neuronal Ceroid Lipofuscinosis-like Disorder in a Dachshund with Sequence Variants in Lysosome-Related Genes. [PDF]

Genes (Basel)
Coates JR, Keyes K, Whiting REH, Kuroki J, Morgan-Jack B, Mhlanga-Mutangadura T, Kuroki K, Katz ML.   +7 more
europepmc   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report. [PDF]

Cureus
Niño JC, Caicedo CA, Cárdenas J.
europepmc   +1 more source

ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV. [PDF]

Genetics, 2016
Huynh JM, Dang H, Munoz-Tucker IA, O'Ketch M, Liu IT, Perno S, Bhuyan N, Crain A, Borbon I, Fares H.   +9 more
europepmc   +1 more source

Disruption of iron metabolism resulting from Dmt1/Slc11a2 deficiency compromises Notch protein degradation and transcriptional activation

The FEBS Journal, EarlyView.
Divalent metal transporter 1 (Dmt1) maintains iron homeostasis and lysosomal proteostasis required for physiological Notch receptor–ligand signaling. Dmt1 loss lowers iron storage capacity (ferritin), increasing intracellular Fe2+, driving ROS and lipid peroxidation, and leading to lysosomal/mitochondrial dysfunction.
Rui Zhang, Somaieh Ahmadian, Jolanda Piepers, Florian Bock, Tom Keulers, Marc A. Vooijs   +5 more
wiley   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Giuseppina De Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

The epigenetic landscape of skeletal muscle in response to exercise and aging

The FEBS Journal, EarlyView.
Epigenetic mechanisms regulate gene expression in response to exercise and aging, thereby supporting skeletal muscle plasticity. Acute exercise induces chromatin remodeling through histone modifications and DNA methylation, promoting the expression of exercise‐responsive genes.
Sabrina Champsi, David A. Hood
wiley   +1 more source

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

RNF13 regulates the endolysosomal pathway through interaction with the small GTPase Arl8B

The FEBS Journal, EarlyView.
The E3 ubiquitin ligase RNF13 functions as a regulatory scaffold, organizing Arl8B‐dependent complexes and tuning downstream signaling that controls endolysosomal organization and trafficking. In this model, wild‐type RNF13 associates with Arl8B on endolysosomes, whereas Arl8B (E22D/F55A) or RNF13 (L244A) variants weaken complex assembly, potentially ...
Audrey M. Sénécal, Valérie C. Cabana, Antoine Y. Bouchard, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +1 more source