Results 161 to 170 of about 143,230 (264)

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants. [PDF]

Mov Disord
Westenberger A, Verdura E, Radefeldt M, Sanderson LE, Tripolszki K, Marcé-Grau A, Cazurro-Gutiérrez A, Nikoncuk A, Herzog R, Al-Ali R, Ferreira M, Almeida LS, Silveira TRD, Khan S, Maia RD, Klivényi P, Salamon A, Baltaci V, Subasioglu A, Prada-Arismendy J, Čuturilo G, Loens S, Tadic V, Maystadt I, Karadurmus D, Leube B, De Winter J, Monticelli A, De Waele L, Baets J, Vinkšel M, Maver A, Tschopp L, Ziegler G, Sanguinetti A, Lohmann K, Barakat TS, Bauer P, Perez-Dueñas B, Bertoli-Avella AM.   +39 more
europepmc   +1 more source

A Phosphorylation‐Induced Micellization Switch in the Low‐Complexity Domain of TDP‐43

Advanced Science, EarlyView.
Phosphorylation of TAR DNA‐binding protein's 43 kDa (TDP‐43) low‐complexity domain by casein kinase 1 delta (CK1δ) acts as a molecular switch, redirecting its self‐assembly from macroscopic phase separation toward finite‐sized, spherical block‐copolymer micelles of ∼30 nm.
Rodrigo F. Dillenburg, Anastasia Lopatina, Hao Ruan, Tom Scheidt, Simone Mosna, Emre Pekbilir, Julia Bieber, Frank Schäfer‐Depoix, Katharina Landfester, Carla Schmidt, Martin M. Möckel, Svenja Morsbach, Friederike Schmid, Dorothee Dormann, Lukas Stelzl, Martin Girard, Edward A. Lemke   +16 more
wiley   +1 more source

Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians. [PDF]

J Clin Invest
Li F, Shinomiya H, Kuramoto Y, Kanaoka K, Sakahashi Y, Ishihara Y, Kioka H, Ide S, Yamaguchi-Kabata Y, Tadaka S, Motoike IN, Kinoshita K, Ohneda K, Sakurai H, Okumura T, Miyashita Y, Jojima K, Kato H, Matsuoka K, Tanabe K, Nishimura S, Takashima S, Asano Y, Sakata Y.   +23 more
europepmc   +1 more source

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

A Novel Pathogenic <i>CHD7</i> Splice-Site Variant in a Neonate with CHARGE Syndrome Identified by Blood RNA Analysis. [PDF]

Ann Lab Med
Yu S, Jang JH, Yang M, Chang YS, Kim H, Jang MA.   +5 more
europepmc   +1 more source

SPSB1 Promotes Subcutaneous Adipose Hyperplasia in Facial Port‐Wine Stains by Controlling HDAC1 Degradation and Stability Through Two Distinct Proteolytic Pathways

Advanced Science, EarlyView.
In PWS‐ASPCs, FOSL1 drives the expression of SPSB1. SPSB1, as part of the ESC complex, further binds to HDAC1 and promotes K29‐linked and K48‐linked polyubiquitination of HDAC1. These modifications facilitate the degradation of HDAC1 through the ALP and UPS pathways, respectively.
Hongrui Chen, Bin Sun, Yajing Qiu, Chen Hua, Xiaoxi Lin, Wei Gao   +5 more
wiley   +1 more source

Splice site diversity and abundance of noncanonical introns in diplonemids (Diplonemea, Euglenozoa). [PDF]

RNA
Thakur PK, Butenko A, Karásek F, Svobodová M, Faktorová D, Pavlisková H, Varga V, Horák A, Lukeš J, Staněk D.   +9 more
europepmc   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

Pasta, a Versatile Transcriptomic Clock, Maps the Chemical and Genetic Determinants of Aging and Rejuvenation

Advanced Science, EarlyView.
Pasta is a transcriptomic aging clock built on an age‐shift learning framework and trained on 17 000 samples across 21 datasets. It accurately predicts relative biological age across tissues, platforms, and species, captures stemness‐to‐senescence transitions, and identifies age‐modulatory perturbations.
Jérôme Salignon, Maria Tsiokou, Patricia Marqués, Enriqueta Rodríguez‐Diaz, Hazel Ang, Federico Pietrocola, Christian G. Riedel   +6 more
wiley   +1 more source

Characterisation of a Leaky Splice-Site Mutation Associated with Phenotypic Diversity in Two Unrelated Patients with ARPC1B Deficiency. [PDF]

J Clin Immunol
Quach A, King J, Putty T, Gold M, Quinn P, Ferrante A.   +5 more
europepmc   +1 more source