Results 41 to 50 of about 1,253 (161)
Molecules, 2009 A well characterized, peptide derivative of bovine lactoferrin, L12, has been shown to possess anticancer properties in multiple cell lines. However, adverse side effects in normal tissues and poor plasma kinetics that hinder the clinical effectiveness ...
Emily Thomas +2 more
doaj +1 more source
Elongator and the role of its subcomplexes in human diseases
EMBO Molecular Medicine, 2022 The Elongator complex was initially identified in yeast, and a variety of distinct cellular functions have been assigned to the complex. In the last decade, several research groups focussed on dissecting its structure, tRNA modification activity and role
Monika Gaik +3 more
doaj +1 more source
Identification of functionally important sites of phosphorylation in Elp1.
, 2015 (A) Cartoon showing Elp1 indicating mapped sites of phosphorylation and structural elements predicted using PSIPRED [82], with predicted α-helix shown in black and β-sheet in grey.
Wael Abdel-Fattah (682306) +9 more
core +1 more source
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
, 2022 Familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy, is caused by a mutation in the Elongator complex protein 1 (ELP1) gene that lead to a tissue-specific reduction of ELP1 protein.
Aram J Krauson (13130514) +13 more
core +2 more sources
Disease Models & Mechanisms, 2022 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj +1 more source
Developmental Dynamics, EarlyView.Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source
Metabolites, 2023 Central metabolism has a profound impact on the clinical phenotypes and penetrance of neurological diseases such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, Amyotrophic Lateral Sclerosis (ALS) and Autism Spectrum Disorder (ASD). In contrast to the
Stephanann M. Costello +8 more
doaj +1 more source
Brain Pathology, EarlyView.A practical formalin‐fixed, paraffin‐embedded (FFPE)‐based molecular workflow integrating pathology, immunohistochemistry, and genomic profiling provides clinically meaningful subgroup classification of pediatric medulloblastoma and expands molecular evidence from an underrepresented Central Asian population. Abstract Medulloblastoma is the most common
Aidos Bolatov +9 more
wiley +1 more source
ELP1 Loss Disrupts Protein Homeostasis to Promote SHH Medulloblastoma [PDF]
Cancer Discovery, 2020 Abstract Germline loss-of-function ELP1 variants were found in pediatric Sonic Hedgehog medulloblastomas.
openaire +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source