HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease [PDF]
, 2018 Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products.
Alzheimer’s Disease Neuroimaging Initiative +8 more
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EXON RESINS: each one engineered for Specific Problems and Specific Uses [PDF]
, 1955 openalex +1 more source
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn +29 more
wiley +1 more source
KRAS and NRAS mutational gene profile of metastatic colorectal cancer patients in Jordan.
PLoS ONE, 2019 BackgroundA constitutively active RAS protein in the absence of stimulation of the epidermal growth factor receptor (EGFR) is the result of mutations in KRAS and NRAS genes.
Muhammad Awidi +7 more
doaj +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains [PDF]
, 1985 Mark A. Lehrman +5 more
openalex +1 more source
The CRL7FBXW8 Complex Controls the Mammary Stem Cell Compartment through Regulation of NUMB Levels
Advanced Science, EarlyView.In breast cancer (BC), NUMB loss of function (LOF) is common and mainly driven by protein hyper‐degradation. The CRL7FBXW8 complex is the E3 ligase responsible for NUMB degradation. Inhibition of CRL7FBXW8 in NUMB‐LOF BC cells restores NUMB levels, and decreases the number of cancer stem cells and tumorigenic ability in vivo. Targeting CRL7FBXW8 offers
Simone Sabbioni +16 more
wiley +1 more source