Results 111 to 120 of about 48,192 (208)
From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family
Protein Science, Volume 35, Issue 4, April 2026.Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer +2 more
wiley +1 more source
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [PDF]
, 2017 We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased γ-filamin, myotilin, desmin and α-actinin in many NM patients, consistent
Clement, Sophie +8 more
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
core +1 more source
The return of metabolism: biochemistry and physiology of glycolysis
Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning +19 more
wiley +1 more source
ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods
Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru +10 more
wiley +1 more source
A congenital myopathy of unknown origin
Arquivos de Neuro-Psiquiatria, 1977 Parallel with the clinical and histochemical investigations, an ultrastructural examination of a muscle biopsy specimen was made, in order to detect any slight cellular alterations which cannot possibly be discovered through any other methods, and to ...
J. A. Levy +4 more
doaj +1 more source
, 2010 We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core +1 more source
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome [PDF]
, 2017 Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene,
Baudis, Michael +33 more
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