Motor neuron mitochondrial dysfunction in spinal muscular atrophy

Mito-Morphosis: Mitochondrial Fusion, Fission, and Cristae Remodeling as Key Mediators of Cellular Function

(2016) Lena Pernas et al.   Annual Review of Physiology

Molecular mechanisms and animal models of spinal muscular atrophy

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Mitochondrial division and fusion in metabolism

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Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

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SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons

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Non-Aggregating Tau Phosphorylation by Cyclin-Dependent Kinase 5 Contributes to Motor Neuron Degeneration in Spinal Muscular Atrophy

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Spinal muscular atrophy—recent therapeutic advances for an old challenge

(2015) Irene Faravelli et al.   Nature Reviews Neurology

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

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Glucose Regulates Mitochondrial Motility via Milton Modification by O-GlcNAc Transferase

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Mitochondrial dynamics and inheritance during cell division, development and disease

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Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

(2013) Sara Cogliati et al.   CELL

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons

(2013) Wenzhang Wang et al.   HUMAN MOLECULAR GENETICS

Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models

(2013) Jordi Magrané et al.   HUMAN MOLECULAR GENETICS

Enhancing Mitochondrial Calcium Buffering Capacity Reduces Aggregation of Misfolded SOD1 and Motor Neuron Cell Death without Extending Survival in Mouse Models of Inherited Amyotrophic Lateral Sclerosis

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Calcium Entry and  -Synuclein Inclusions Elevate Dendritic Mitochondrial Oxidant Stress in Dopaminergic Neurons

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The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Axonal transport deficits and neurodegenerative diseases

(2013) Stéphanie Millecamps et al.   NATURE REVIEWS NEUROSCIENCE

Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy

(2012) Zhi-Bo Wang et al.   CELL RESEARCH

Mitochondrial Dynamics and Bioenergetic Dysfunction Is Associated with Synaptic Alterations in Mutant SOD1 Motor Neurons

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Protein–RNA interactions: new genomic technologies and perspectives

(2012) Julian König et al.   NATURE REVIEWS GENETICS

Mutant SOD1G93A triggers mitochondrial fragmentation in spinal cord motor neurons: Neuroprotection by SIRT3 and PGC-1α

(2012) Wenjun Song et al.   NEUROBIOLOGY OF DISEASE

Mitochondrial dynamics in neurodegeneration

(2012) Kie Itoh et al.   TRENDS IN CELL BIOLOGY

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

During autophagy mitochondria elongate, are spared from degradation and sustain cell viability

(2011) Ligia C. Gomes et al.   NATURE CELL BIOLOGY

Mitochondria: The Next (Neurode)Generation

(2011) Eric A. Schon et al.   NEURON

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits

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Newborn and carrier screening for spinal muscular atrophy

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Oxidative Stress and Energy Crises in Neuronal Dysfunction

(2010) David G. Nicholls   Annals of the New York Academy of Sciences

Motor Neuron Diversity in Development and Disease

(2010) Kevin C. Kanning et al.   Annual Review of Neuroscience

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing

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Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy

(2009) Gyula Acsadi et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Transcriptome analysis by strand-specific sequencing of complementary DNA

(2009) Dmitri Parkhomchuk et al.   NUCLEIC ACIDS RESEARCH

Cristae formation—linking ultrastructure and function of mitochondria

(2008) Michael Zick et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Dimer ribbons of ATP synthase shape the inner mitochondrial membrane

(2008) Mike Strauss et al.   EMBO JOURNAL

Spinal muscular atrophy

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Lithium delays progression of amyotrophic lateral sclerosis

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Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

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