Results 201 to 210 of about 11,155,248 (357)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Genomic mapping reveals cisplatin disruption of protein phosphorylation signalling genome-wide. [PDF]

Metallomics
Qi L, Luo Q, Hou Y, Xu Y, Yu W, Liu X, Xin B, Huang Y, Li X, Zhang Y, Wang S, Sadler PJ, Zhao Y, Wang F.   +13 more
europepmc   +2 more sources

Editorial Expression of Concern: Retinoblastoma tumor-suppressor protein phosphorylation and inactivation depend on direct interaction with Pin1. [PDF]

Cell Death Differ
Rizzolio F, Lucchetti C, Caligiuri I, Marchesi I, Caputo M, Klein-Szanto AJ, Bagella L, Castronovo M, Giordano A.   +8 more
europepmc   +1 more source

The importance of intrinsic disorder for protein phosphorylation.

Nucleic Acids Research, 2004
L. Iakoucheva, P. Radivojac, Celeste J. Brown, T. O'Connor, J. Sikes, Z. Obradovic, A. Dunker   +6 more
semanticscholar   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Quantitative Phosphoproteomics Identifies Myofibrillar Protein Phosphorylation Mediated by Pyruvate Kinase M2 in Beef. [PDF]

Foods
Xu Y, Liu X, Ren C, Hou C, Li X, Zhang D.   +5 more
europepmc   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Assessing the relation between protein phosphorylation, AlphaFold3 models, and conformational variability. [PDF]

Protein Sci
Ramasamy P, Zuallaert J, Martens L, Vranken WF.   +3 more
europepmc   +1 more source

Region Specific miRNA–mRNA Networks in Gray and White Matter Lesions of Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a neurodegenerative demyelinating disease of the central nervous system. This study aimed to identify micro‐RNA (miRNA)–mRNA regulatory networks underlying region‐specific molecular mechanisms in white matter and gray matter lesions in progressive MS.
Adya Sapra, Nagendra K. Rai, Timothy D. Niepokny, Haley Courtney, Ajai Tripathi, Ranjan Dutta   +5 more
wiley   +1 more source

Global comparative structural analysis of responses to protein phosphorylation. [PDF]

Nat Commun
Correa Marrero M, Mello VH, Sartori P, Beltrao P.   +3 more
europepmc   +1 more source