Leigh Syndrome

Leigh syndrome, caused by a dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. Discover the latest research on Leigh syndrome here.

October 17, 2021
Review

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.

Current Opinion in Neurobiology
Melissa A WalkerVamsi K Mootha
October 13, 2021
Open Access

Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity.

International Journal of Molecular Sciences
Ajibola B BakareShilpa Iyer
October 13, 2021

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.

Human Molecular Genetics
Sebastian KenvinHenna Tyynismaa
October 11, 2021

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

Orphanet Journal of Rare Diseases
Anna ArdissoneIsabella Moroni
October 9, 2021

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

Archives of Disease in Childhood. Fetal and Neonatal Edition
Tomohiro EbiharaKei Murayama
October 7, 2021

The Gro3p factor: Restoring NAD+/NADH homeostasis to ameliorate mitochondrial disease.

Cell Metabolism
Divakar S Mithal, Navdeep S Chandel
September 30, 2021
Case Report
Open Access

Successful recovery from severe hypertension in a patient with Leigh syndrome.

Molecular Genetics and Metabolism Reports
Yuto AraiKiyoshi Nagumo
September 29, 2021
Preprint
Open Access

Iron Status Influences Mitochondrial Disease Progression in Complex I-Deficient Mice

BioRxiv : the Preprint Server for Biology
A. S. GrilloMatt Kaeberlein
September 29, 2021

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Nobuhiko OkamotoKenjiro Kosaki
September 27, 2021

A colorimetric biosensor for ultrasensitive detection of the SURF1 gene based on a dual DNA-induced cascade hybridization reaction.

Analytical Methods : Advancing Methods and Applications
Tianxiao YuJun Ge
September 20, 2021
Case Report

Late-onset Leigh syndrome without delayed development in China: A case report.

World Journal of Clinical Cases
Jian-Min LiangXue-Mei Wu
September 20, 2021
Case Report

MEGDEL Syndrome and Its Anesthetic Implications.

Curēus
Balazs HorvathBenjamin Kloesel
September 16, 2021

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.

Molecular Genetics and Metabolism Reports
Yurika Numata-UematsuKen Inoue
September 6, 2021
Case Report

Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with NDUFS4 gene mutation.

Clinical Case Reports
Mohammad Vafaee-ShahiLeila Tahernia
August 30, 2021
Review
Open Access

Leigh Syndrome: A Tale of Two Genomes.

Frontiers in Physiology
Ajibola B BakareShilpa Iyer
August 27, 2021
Open Access

3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.

Annals of Indian Academy of Neurology
Nafiye Emel Çakar, Orhan Görükmez

Sign up to follow this feed and discover related papers.

Related Feeds

3D Cellular Models of Brain and Neurodegeneration

Brain organoids are three-dimensional in vitro cellular models of the brain that can recapitulate many processes such as the neurodevelopment. In addition, these organoids can be combined with other cell types, such as neurons and astrocytes to study their interactions in assembloids. Disease processes can also be modeled by induced pluripotent stem cell-derived organoids and assembloids from patients with neurodegenerative disorders. Discover the latest research on the models here.

ALS & FTD: TDP-43

TAR DNA-binding protein 43 (TDP-43) is a pathological protein identified in sporadic Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Here are the latest discoveries pertaining to TDP-43 and these diseases.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Pathogenic Mechanisms

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS: Phenotypes

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized phenotypically by progressive muscle weakness. Clinical phenotypes of ALS can be classified based on the pattern, level, and area of onset (e.g. bulbar, cervical, lumbar). Here is the latest research investigating phenotypes of ALS.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here is the latest research on ALS and prions.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research in this field.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS) is associated with the death of neurons that control voluntary muscles. This feed followes the latest research into therapies for this progressive neurodegenerative disease.

Acute Disseminated Encephalomyelitis

Acute disseminated encephalomyelitis (ADEM) is a rare inflammatory demyelinating disease of the central nervous system. Discover the latest research on acute disseminated encephalomyelitis here.

Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

© 2021 Meta ULC. All rights reserved
/feed-previews/leigh-syndrome/098bc7ee-c679-43d8-8e53-b47ebb1c6685