CHIP control degradation of mutant ETF : QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

(2016) Rikke K.J. Olsen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

(2016) Manuel Schiff et al.   NEW ENGLAND JOURNAL OF MEDICINE

CHIP: A new modulator of human malignant disorders

(2016) Zhe Cao et al.   Oncotarget

Mass Spectrometry-Based Detection and Assignment of Protein Posttranslational Modifications

(2014) Sophia Doll et al.   ACS Chemical Biology

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases and a literature review in mainland Chinese patients

(2014) Min Zhu et al.   JOURNAL OF HUMAN GENETICS

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

Large-scale identification of ubiquitination sites by mass spectrometry

(2013) Namrata D Udeshi et al.   Nature Protocols

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

(2012) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ubiquitin ligase CHIP induces TRAF2 proteasomal degradation and NF-κB inactivation to regulate breast cancer cell invasion

(2011) Kang Won Jang et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A

(2011) Zhi-Qiang Wang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH

(2011) A.B. Lämmer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif

(2011) Tze-Kiong Er et al.   BMC STRUCTURAL BIOLOGY

High resolution melting analysis facilitates mutation screening of ETFDH gene: Applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2010) Tze-Kiong Er et al.   CLINICA CHIMICA ACTA

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy

(2010) M-Y Lan et al.   CLINICAL GENETICS

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

(2010) Gladys Ho et al.   HUMAN MUTATION

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Lap-Kay Law et al.   CLINICA CHIMICA ACTA

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

(2009) B. Wen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

CHIP Represses Myocardin-Induced Smooth Muscle Cell Differentiation via Ubiquitin-Mediated Proteasomal Degradation

(2009) P. Xie et al.   MOLECULAR AND CELLULAR BIOLOGY

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Wen-Chen Liang et al.   NEUROMUSCULAR DISORDERS

Mitochondrial protein quality control: Implications in ageing

(2008) Bertrand Friguet et al.   Biotechnology Journal

Quality control of mitochondria: protection against neurodegeneration and ageing

(2008) Takashi Tatsuta et al.   EMBO JOURNAL

Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency

(2008) Bárbara J. Henriques et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2

(2008) Yuka Yotsumoto et al.   MOLECULAR GENETICS AND METABOLISM