Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy
Authors
Keywords
-
Journal
Frontiers in Neurology
Volume 10, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2019-10-04
DOI
10.3389/fneur.2019.00981
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Altered mitochondrial bioenergetics and ultrastructure in the skeletal muscle of young adults with type 1 diabetes
- (2018) Cynthia M. F. Monaco et al. DIABETOLOGIA
- Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
- (2018) Bradley Peter et al. HUMAN MOLECULAR GENETICS
- Clinical features of LONP1 -related infantile cataract
- (2018) Arif O. Khan et al. JOURNAL OF AAPOS
- LONP1 Is Required for Maturation of a Subset of Mitochondrial Proteins, and Its Loss Elicits an Integrated Stress Response
- (2018) Olga Zurita Rendón et al. MOLECULAR AND CELLULAR BIOLOGY
- Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
- (2018) Graeme A M Nimmo et al. HUMAN MOLECULAR GENETICS
- Revisiting mitochondrial diagnostic criteria in the new era of genomics
- (2017) Peter Witters et al. GENETICS IN MEDICINE
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
- (2017) Sumit Parikh et al. GENETICS IN MEDICINE
- A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
- (2017) Takehiko Inui et al. JOURNAL OF HUMAN GENETICS
- CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
- (2015) Kevin A. Strauss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome
- (2015) Esra Dikoglu et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
- (2014) Chandree L. Beaulieu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
- (2014) Sumit Parikh et al. GENETICS IN MEDICINE
- ATP-Dependent Lon Protease Controls Tumor Bioenergetics by Reprogramming Mitochondrial Activity
- (2014) Pedro M. Quirós et al. Cell Reports
- Endurance Training Modulates Intramyocellular Lipid Compartmentalization and Morphology in Skeletal Muscle of Lean and Obese Women
- (2013) Michaela C. Devries et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Mitochondrial AAA proteases — Towards a molecular understanding of membrane-bound proteolytic machines
- (2011) Florian Gerdes et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Suction-modified Bergström muscle biopsy technique: Experience with 13,500 procedures
- (2011) Mark A. Tarnopolsky et al. MUSCLE & NERVE
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started