Mitochondrial disease in adults: recent advances and future promise
Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …
and major progress has been made in our understanding, diagnosis, and treatment of these …
Leigh syndrome: one disorder, more than 75 monogenic causes
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
Mitochondrial disorders represent a large collection of rare syndromes that are difficult to
manage both because we do not fully understand biochemical pathogenesis and because …
manage both because we do not fully understand biochemical pathogenesis and because …
[HTML][HTML] Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …
management and care for patients with primary mitochondrial disease. This statement is …
Mitochondrial medicine in the omics era
J Rahman, S Rahman - The Lancet, 2018 - thelancet.com
Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …
Leigh syndrome: a tale of two genomes
Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early
childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The …
childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The …
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is
currently incurable. The lack of effective models hampers our understanding of the …
currently incurable. The lack of effective models hampers our understanding of the …
Molecular basis of Leigh syndrome: a current look
M Schubert Baldo, L Vilarinho - Orphanet journal of rare diseases, 2020 - Springer
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in
mitochondrial energy production that usually starts in early childhood. The first description …
mitochondrial energy production that usually starts in early childhood. The first description …
Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome
Mitochondria transfer is a recently described phenomenon in which donor cells deliver
mitochondria to acceptor cells,–. One possible consequence of mitochondria transfer is …
mitochondria to acceptor cells,–. One possible consequence of mitochondria transfer is …
Leigh syndrome: neuropathology and pathogenesis
NJ Lake, MJ Bird, P Isohanni… - … of Neuropathology & …, 2015 - academic.oup.com
Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial
disease. This progressive encephalopathy is characterized pathologically by the …
disease. This progressive encephalopathy is characterized pathologically by the …