Results 111 to 120 of about 510,893 (315)
Matrix: a complex amalgam of structures and functions in tumor microenvironment
FEBS Open Bio, EarlyView.The matrix is a dynamic, intricate three‐dimensional mesh of biomolecules with both structural and functional properties. This review deals with the complexity of this ‘molecular amalgam’ in the tumor microenvironment and highlights its importance in the maintenance and evolution of tumors by describing certain matrix biomolecules, such as ...
Spyros S. Skandalis +3 more
wiley +1 more source
The structure of acid mucopolysaccharides produced by Hurler fibroblasts in tissue culture. [PDF]
, 1968 Reuben Matalon, Albert Dorfman
openalex +1 more source
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
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
Galactose-1-phosphate uridyltransferase and galactokinase activity in cultured human diploid fibroblasts and peripheral blood leukocytes [PDF]
, 1969 Thomas A. Tedesco, William J. Mellman
openalex +1 more source
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden +15 more
wiley +1 more source
CHOLESTEROL REQUIREMENT OF PRIMARY DIPLOID HUMAN FIBROBLASTS [PDF]
, 1969 Richard Holmes +2 more
openalex +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