Association of TRMT2B gene variants with juvenile amyotrophic lateral sclerosis

Mitochondrial plasticity supports proliferative outgrowth and invasion of ovarian cancer spheroids during adhesion

(2023) Joseph P. Grieco et al.   Frontiers in Oncology

Epitranscriptomic regulation of cortical neurogenesis via Mettl8-dependent mitochondrial tRNA m3C modification

(2023) Feng Zhang et al.   Cell Stem Cell

C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly

(2021) Tao Wang et al.   Cell Metabolism

The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment

(2021) Paola Lanteri et al.   NEUROBIOLOGY OF AGING

Electrospun polycaprolactone/hydroxyapatite/ZnO films as potential biomaterials for application in bone-tendon interface repair

(2021) Xi He et al.   COLLOIDS AND SURFACES B-BIOINTERFACES

Mutation spectrum of amyotrophic lateral sclerosis in Central South China

(2021) Zhen Liu et al.   NEUROBIOLOGY OF AGING

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

(2021) Janel O. Johnson et al.   JAMA Neurology

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

(2021) Topaz Altman et al.   Nature Communications

Mitochondria Dysfunction in Frontotemporal Dementia/Amyotrophic Lateral Sclerosis: Lessons From Drosophila Models

(2021) Sharifah Anoar et al.   Frontiers in Neuroscience

New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis

(2021) Frances Theunissen et al.   Translational Neurodegeneration

TRMT2B is responsible for both tRNA and rRNA m5U-methylation in human mitochondria

(2020) Christopher A. Powell et al.   RNA Biology

Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome

(2020) Xuanyu Jiang et al.   CLINICA CHIMICA ACTA

TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response

(2019) Peng Wang et al.   PLoS Genetics

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

(2019) Yun Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epidemiology of amyotrophic lateral sclerosis

(2019) Elisa Longinetti et al.   CURRENT OPINION IN NEUROLOGY

Mouse Trmt2B protein is a dual specific mitochondrial metyltransferase responsible for m5U formation in both tRNA and rRNA

(2019) Ivan Laptev et al.   RNA Biology

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Impact of tRNA Modifications and tRNA-Modifying Enzymes on Proteostasis and Human Disease

(2018) Marisa Pereira et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

NRF2 and NF-қB interplay in cerebrovascular and neurodegenerative disorders: Molecular mechanisms and possible therapeutic approaches

(2018) Farzane Sivandzade et al.   Redox Biology

Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity

(2017) P. A. McCombe et al.   Expert Review of Neurotherapeutics

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity

(2017) P. A. McCombe et al.   Expert Review of Neurotherapeutics

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy

(2017) Hooi Ling Teoh et al.   NEURAL PLASTICITY

Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China

(2016) Lihua Hou et al.   Scientific Reports

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia

(2015) Hui Guo et al.   GENETICS IN MEDICINE

Alzheimer's disease is associated with altered expression of genes involved in immune response and mitochondrial processes in astrocytes

(2015) Shobana Sekar et al.   NEUROBIOLOGY OF AGING

Potential Environmental Factors in Amyotrophic Lateral Sclerosis

(2015) Björn Oskarsson et al.   NEUROLOGIC CLINICS

Multisystem proteinopathy: Table

(2015) J. Paul Taylor   NEUROLOGY

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

(2015) Behzad Davarniya et al.   PLoS One

Mitochondrial Dysfunction Indirectly Elevates ROS Production by the Endoplasmic Reticulum

(2013) Michael P. Murphy   Cell Metabolism

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

(2013) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

(2013) Mariana Igoillo-Esteve et al.   PLoS Genetics

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN