Results 181 to 190 of about 44,110 (224)

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

Calmodulin assists during co‐translational folding of the KV7.2 channel calcium responsive domain

Protein Science, Volume 35, Issue 5, May 2026.
Abstract In vivo, the majority of nascent protein chains begin folding during translation in order to reach their native structure. While the importance of co‐translational folding has become increasingly clear, the specific mechanisms underlying the coordination between the ribosome, the nascent chain and interacting partners are still uncertain. Here,
Arantza Muguruza‐Montero, Jack R. Tait, Sara M‐Alicante, Ane Metola, Eider Nuñez, Janire Urrutia, Vanda Sunderlíková, Alexandros Katranidis, Gunnar von Heijne, Sander J. Tans, Alvaro Villarroel   +10 more
wiley   +1 more source

Tenebrio molitor‐Derived Enzyme Systems Enable Solvent‐Reduced Recovery of Intracellular Polyhydroxyalkanoates

Microbial Biotechnology, Volume 19, Issue 5, May 2026.
Multi‐enzyme systems from Tenebrio molitor enable solvent‐free recovery of microbial PHAs directly from wet biomass under mild aqueous conditions, achieving high polymer yields and integrity while reducing carbon footprint up to seven‐fold compared with conventional extraction methods.
Sanja Skaro Bogojevic, Brana Pantelic, Marijana Ponjavic, Tatjana Ilic‐Tomic, Dusan Milivojevic, Maciej Guzik, Marcin Rychwalski, Romanos Siaperas, Evangelos Topakas, Mónica Carvalheira, Filomena Freitas, Patrícia Concórdio‐Reis, Jasmina Nikodinovic‐Runic   +12 more
wiley   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

American Journal of Hematology, Volume 101, Issue 6, Page 1196-1200, June 2026.
Bo A. Wan, Hamish Nicolson, Heather A. Leitch, Ryan J. Stubbins, Luke Y. C. Chen, Timothy Murray, Amy Trottier, Anthony Gador   +7 more
wiley   +1 more source

Characterising PRPF31‐associated retinal dystrophy: Clinical insights from baseline data in a natural history study

Acta Ophthalmologica, Volume 104, Issue 3, Page e317-e328, May 2026.
Abstract Purpose To characterise the baseline clinical features and genotypes of adults with pre‐mRNA processing factor 31 (PRPF31)‐associated retinal dystrophy (RD) enrolled in a prospective, multicentre 4‐year natural history study, and to explore correlations between selected baseline parameters.
Kathrine Olaussen Eriksen, Jon Roger Eidet, Ulrika Kjellström, Jacopo Baldesi, Ragnheidur Bragadóttir, Leonardo Colombo, Josephine Prener Holtan   +6 more
wiley   +1 more source

CCGG deletion (rs201074739) in CD33 results in premature termination codon and complete loss of CD33 expression: another key variant with potential impact on response to CD33-directed agents. [PDF]

Leuk Lymphoma, 2019
Papageorgiou I, Loken MR, Brodersen LE, Gbadamosi M, Uy GL, Meshinchi S, Lamba JK.   +6 more
europepmc   +1 more source

Stem microanatomical phenomic uncovers a potential role for ZmLSM2 in regulating maize stem bending strength

Journal of Integrative Plant Biology, Volume 68, Issue 5, Page 1271-1289, May 2026.
Maize ZmLSM2 (U6 small nuclear ribonucleoprotein specific Sm‐like 2) controls maize stem strength by affecting vascular bundle structure. Using advanced computed tomography imaging and artificial intelligence identified key stem traits linked to lodging resistance and developed a predictive model.
Ying Zhang, Zejia Wang, Jianjun Du, Jiawen Li, Guanmin Huang, Yanxin Zhao, Yanru Wang, Qingmei Men, Minkun Guo, Minggang Zhang, Xianju Lu, Chuanyu Wang, Qikun Liu, Xinyu Guo, Chunjiang Zhao   +14 more
wiley   +1 more source

Urine‐Derived iPSC Neurospheres Uncover Proteomic Correlates of Clinical Severity in Dravet Syndrome

Journal of Neurochemistry, Volume 170, Issue 5, May 2026.
Urine epithelial cells from Dravet syndrome (DS) patients carrying distinct SCN1A variants were reprogrammed into induced pluripotent stem cells (iPSCs) and differentiated into neural stem cells (NSCs) to generate patient‐derived neurospheres. Three neurosphere lines were analyzed in biological triplicates using isobaric quantitative proteomics ...
Michele Martins, Guillaume Nugue, Andrey Aguiar, Leticia R. Q. Souza, Paulo V. Abrantes, Julia Rodrigues Trajano, Mariana Stelling, Magno Junqueira, Stevens Rehen, Marília Zaluar P. Guimarães   +9 more
wiley   +1 more source

Structure-Activity Relationship Study of Leucyl-3-epi-deoxynegamycin for Potent Premature Termination Codon Readthrough. [PDF]

ACS Med Chem Lett, 2017
Taguchi A, Hamada K, Shiozuka M, Kobayashi M, Murakami S, Takayama K, Taniguchi A, Usui T, Matsuda R, Hayashi Y.   +9 more
europepmc   +1 more source

The Rice Stripe Virus p2 Interacts With Lsm1 and Disrupts the Lsm1‐Lsm4 Complex to Facilitate the Viral infection

Molecular Plant Pathology, Volume 27, Issue 5, May 2026.
RSV p2 binds Lsm1, disrupting Lsm1‐Lsm4 association and impairing decapping‐dependent mRNA decay in P‐bodies, leading to the accumulation of unstable mRNAs and enhanced RSV infection. ABSTRACT Processing bodies (P‐bodies) play central roles in RNA metabolism and in the regulation of viral infection.
Anqi Hu, Zizhou Zhao, Minjie Shen, Yi Chen, Ying Chen, Miaomiao Li, Lin Lin, Hongying Zheng, Jiejun Peng, Yan Liang, Jianping Chen, Fei Yan, Yuwen Lu   +12 more
wiley   +1 more source