Results 191 to 200 of about 84,281 (289)

Movement Disorders in Developmental and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad   +2 more
wiley   +1 more source

Plasmepsins as Antimalarial Drug Targets—Then, Now, and the Future

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT Malaria is a devastating disease caused by Plasmodium parasites. Plasmodium parasites express ten cathepsin D‐like aspartyl proteases, called plasmepsins (PMs). These PMs have diverse roles fulfill diverse functions throughout the parasite's lifecycle, though several exhibit functional redundancies. Among them, PMV, PMIV, and PMX are essential
Brad E. Sleebs
wiley   +1 more source

Gene loss and compensatory evolution as a source of metabolic preadaptations. [PDF]

open access: yesMol Biol Evol
Kalapis D   +8 more
europepmc   +1 more source

Small‐Molecule Kinase Inhibitors Modulating Circadian Rhythms

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT The circadian clock mechanism generates 24‐h rhythms crucial for regulating various physiological processes, and its dysregulation has been implicated in numerous diseases. In cells, the circadian clock operates through a transcriptional‐translational feedback loop, where phosphorylation plays a pivotal role in maintaining accurate circadian ...
Irene Castellino   +3 more
wiley   +1 more source

Histiocytosis development and clinical variation through the lens of genomics

open access: yesThe Journal of Pathology, EarlyView.
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps   +3 more
wiley   +1 more source

Lipodystrophy and adipose tissue recovery are mediated by the Wnt/lipogenesis axis during skin fibrosis

open access: yesThe Journal of Pathology, EarlyView.
Abstract Acquired lipodystrophy in the dermal white adipose tissue (DWAT) is an early phenotype of skin fibrosis, followed by the accumulation of extracellular matrix (ECM). Lipodystrophy syndromes are estimated to affect 1 in 20,000 people and are associated with metabolic comorbidities.
Suneeti R Madhavan   +10 more
wiley   +1 more source

Interplay of Ser273 Phosphorylation and K268 and K293 Acetylation in PPARγ: Implications for PPARγ Activation

open access: yesProteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Post‐translational modifications (PTMs) play a critical role in regulating the transcriptional activity of PPARγ, a nuclear receptor central to glucose and lipid homeostasis. Among these, lysine acetylation at K268 and K293 and phosphorylation at S273 are particularly relevant to insulin sensitivity.
Caique Camargo Malospirito   +6 more
wiley   +1 more source

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