Proteoforms in Disease: Biomedical Applications of Top‐Down Proteomics
ABSTRACT The proteome is a dynamic landscape of proteoforms arising from genetic mutations, alternative splicing, and post‐translational modifications (PTMs), which collectively drive biological function and disease phenotypes. Mass spectrometry (MS)‐based proteomics has emerged as an essential technique for elucidating this molecular complexity ...
Holden T. Rogers +5 more
wiley +1 more source
Maturity-Onset Diabetes of the Young (MODY) Presenting With a Diabetic Foot Ulcer: A Case Report. [PDF]
Saleem A +4 more
europepmc +1 more source
Abstract Background Parkinson's disease (PD) and multiple system atrophy (MSA) are α‐synucleinopathies with overlapping autonomic and sleep dysfunction, but distinct trajectories. Objectives This study compared sleep and autonomic profiles in PD and MSA and elucidated disease‐specific associations using structural equation modeling (SEM).
Bora Jin +5 more
wiley +1 more source
Revisiting the heterogeneity of maturity-onset diabetes of the young: A new classification scheme based on pathogenic mechanisms. [PDF]
Shi P +6 more
europepmc +1 more source
This review summarizes the immuno‐inflammatory mechanisms driving the pathogenesis of osteoarthritis (OA), extending beyond the traditional view of OA as a purely degenerative disease to incorporate immune cell infiltration, inflammatory factor release, and the formation of a chronic low‐grade inflammatory microenvironment.
Qingqiang Lei +9 more
wiley +1 more source
Obstructive Sleep Apnea, Resting Heart Rate, and Glycemic Variability in Adults With Maturity-Onset Diabetes of the Young. [PDF]
Arosemena M +7 more
europepmc +1 more source
The AI‐enabled multimodal framework for whole‐life myopia management. Graphical abstract illustrates the transition of myopia care from premyopia to myopia, high myopia, and pathologic myopia. Multimodal data, including demographic and refractive information, genetic, behavioral and environmental factors, ophthalmic imaging, and omics profiles, can be ...
Zewei Zhang +6 more
wiley +1 more source
When type 1 diabetes isn't the answer: A case series of siblings with misdiagnosed diabetes mellitus later confirmed as maturity-onset diabetes of the young. [PDF]
Alfares KA.
europepmc +1 more source
Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska +6 more
wiley +1 more source
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5. [PDF]
Tanaka S +3 more
europepmc +1 more source

