A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

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

Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery

(2015) Andreas Roos et al.   MOLECULAR NEUROBIOLOGY

A nationwide survey on Marinesco-Sjögren syndrome in Japan

(2014) Masahide Goto et al.   Orphanet Journal of Rare Diseases

Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

(2013) Andreas Roos et al.   ACTA NEUROPATHOLOGICA

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

(2013) Michael Krieger et al.   BRAIN

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multitasking in the mitochondrion by the ATP-dependent Lon protease

(2011) Sundararajan Venkatesh et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH