Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …
Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type …
Spondylo‐epi‐metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic
skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic …
skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic …
Proteomics analysis of prefrontal cortex of Alzheimer's disease patients revealed dysregulated proteins in the disease and novel proteins associated with amyloid-β …
A Montero-Calle, R Coronel… - Cellular and Molecular …, 2023 - Springer
Background Alzheimer's disease (AD) is a progressive, chronic, and neurodegenerative
disease, and the most common cause of dementia worldwide. Currently, the mechanisms …
disease, and the most common cause of dementia worldwide. Currently, the mechanisms …
The exocyst complex is an essential component of the mammalian constitutive secretory pathway
C Pereira, D Stalder, GSF Anderson… - Journal of Cell …, 2023 - rupress.org
Secreted proteins fulfill a vast array of functions, including immunity, signaling, and
extracellular matrix remodeling. In the trans-Golgi network, proteins destined for constitutive …
extracellular matrix remodeling. In the trans-Golgi network, proteins destined for constitutive …
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
Background Mass spectrometry-based quantitative proteomics has a demonstrated utility in
increasing the diagnostic yield of mitochondrial disorders (MDs) and other rare diseases …
increasing the diagnostic yield of mitochondrial disorders (MDs) and other rare diseases …
Copy number variants in genomes of local sheep breeds from Russia
AV Igoshin, TE Deniskova, AA Yurchenko… - Animal …, 2022 - Wiley Online Library
Copy number variants (CNVs) are genomic structural variations that contribute to many
adaptive and economically important traits in livestock. In this study, we detected CNVs in …
adaptive and economically important traits in livestock. In this study, we detected CNVs in …
Exocyst stimulates multiple steps of exocytic SNARE complex assembly and vesicle fusion
Exocyst is a large multisubunit tethering complex essential for targeting and fusion of
secretory vesicles in eukaryotic cells. Although the assembled exocyst complex has been …
secretory vesicles in eukaryotic cells. Although the assembled exocyst complex has been …
The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD
Summary GGGGCC (G 4 C 2) repeat expansion in C9ORF72 is the most common genetic
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this …
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this …
RNA Landscapes of Brain and Brain-Derived Extracellular Vesicles in Simian Immunodeficiency Virus Infection and Central Nervous System Pathology
Background Brain tissue-derived extracellular vesicles (bdEVs) act locally in the central
nervous system (CNS) and may indicate molecular mechanisms in human …
nervous system (CNS) and may indicate molecular mechanisms in human …
Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases
Only half of individuals with suspected rare diseases receive a definitive genetic diagnosis
following genomic testing. A genetic diagnosis allows access to appropriate patient care and …
following genomic testing. A genetic diagnosis allows access to appropriate patient care and …