Cargando…

Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

Previous fibroblast and recombinant enzyme studies showed a markedly thermolabile p.Ser113Leu variant compared to the wild-type (WT) in muscle carnitine palmitoyltransferase II (CPT II) deficiency. Additionally, it has been shown that cardiolipin (CLP) stimulated or inhibited the p.Ser113Leu recombi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Joshi, Pushpa Raj, Gräfin zu Stolberg-Stolberg, Maria, Scholle, Leila Motlagh, Meinhardt, Beate, Pegoraro, Elena, Zierz, Stephan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9699036/ https://www.ncbi.nlm.nih.gov/pubmed/36422281 http://dx.doi.org/10.3390/metabo12111141

Ejemplares similares

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency
por: Motlagh Scholle, Leila, et al.
Publicado: (2019)

Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F
por: Meinhardt, Beate, et al.
Publicado: (2021)

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach
por: Joshi, Pushpa Raj, et al.
Publicado: (2020)

Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
por: Motlagh, Leila, et al.
Publicado: (2016)

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features
por: Lehmann, Diana, et al.
Publicado: (2017)

Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury
por: Gjorgjievski, Nikola, et al.
Publicado: (2018)

The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?
por: Thi Kim Lien, Nguyen, et al.
Publicado: (2019)

Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
por: Rojas Malaga, Diana, et al.
Publicado: (2019)

Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy
por: Castillo, Efrain, et al.
Publicado: (2023)

The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy
por: Bansagi, Boglarka, et al.
Publicado: (2015)

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
por: Mador-House, Rachel, et al.
Publicado: (2021)

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations
por: Niel-Butschi, Florence, et al.
Publicado: (2011)

Failure of ICD therapy in lethal arrhythmogenic right ventricular cardiomyopathy type 5 caused by the TMEM43 p.Ser358Leu mutation
por: Aalbæk Kjærgaard, Kasper, et al.
Publicado: (2016)

Missense mutation of SERPINC1 (p.Ser426Leu) in a young patient presenting as refractory and recurrent venous thromboembolism: A case report
por: Yu, Haixu, et al.
Publicado: (2022)

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency
por: Schnedl, Wolfgang J., et al.
Publicado: (2020)

Identification and Characterization of Carnitine Palmitoyltransferase 1 (cpt 1) Genes in Nile Tilapia, Oreochromis niloticus
por: Bayır, Mehtap, et al.
Publicado: (2020)

Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families
por: Cianci, Vittoria, et al.
Publicado: (2023)

Pathological Relevance of Post-Translationally Modified Alpha-Synuclein (pSer87, pSer129, nTyr39) in Idiopathic Parkinson’s Disease and Multiple System Atrophy
por: Sonustun, Berkiye, et al.
Publicado: (2022)

P631 Community respiratory virus infections in patients with haematological malignancies
por: Chebotkevich, V., et al.
Publicado: (2007)

PSUN63 Approach to hyperlipidemia management in Carnitine Palmitoyltransferase II deficiency
por: Anbari, Raghda A, et al.
Publicado: (2022)

The monthly malady: a history of premenstrual suffering.
por: Stolberg, M
Publicado: (2000)

“You Have No Good Blood in Your Body”. Oral Communication in Sixteenth-Century Physicians’ Medical Practice
por: Stolberg, Michael
Publicado: (2015)

Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
por: Watanabe, Daisuke, et al.
Publicado: (2023)

A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation
por: Alsahlawi, Zahra, et al.
Publicado: (2022)

From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency
por: Marques, Cristina, et al.
Publicado: (2023)

The female syndecan-4(−/−) heart has smaller cardiomyocytes, augmented insulin/pSer473-Akt/pSer9-GSK-3β signaling, and lowered SCOP, pThr308-Akt/Akt and GLUT4 levels
por: Støle, Thea Parsberg, et al.
Publicado: (2022)

Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency
por: Zhang, Weifeng, et al.
Publicado: (2021)

Passive immunotherapy of tauopathy targeting pSer413-tau: a pilot study in mice
por: Umeda, Tomohiro, et al.
Publicado: (2015)

Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation
por: Al Oraimi, Sumaya, et al.
Publicado: (2022)

Vol.15 (2005), Supplement_II pp.S113
Publicado: (2005)

LeuRS can leucylate type I and type II tRNA(Leu)s in Streptomyces coelicolor
por: Fan, Jia-Yi, et al.
Publicado: (2019)

Abbreviated Half-Lives and Impaired Fuel Utilization in Carnitine Palmitoyltransferase II Variant Fibroblasts
por: Yao, Min, et al.
Publicado: (2015)

A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report
por: VAFAEE SHAHI, Mohammad, et al.
Publicado: (2022)

Memorandum: proposal SPSC-P-113
por: Fisher, Colin M, et al.
Publicado: (1978)

P113: INCIDENCE OF HAEMOGLOBINOPATHY IN SLOVAKIA
por: Fabryova, V, et al.
Publicado: (2022)

p.Arg82Leu von Hippel-Lindau (VHL) Gene Mutation among Three Members of a Family with Familial Bilateral Pheochromocytoma in India: Molecular Analysis and In Silico Characterization
por: John, Anulekha Mary, et al.
Publicado: (2013)

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene
por: Pierzynowska, Karolina, et al.
Publicado: (2020)

Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency
por: Choi, Jong Sub, et al.
Publicado: (2016)

Knockdown of carnitine palmitoyltransferase I (CPT1) reduces fat body lipid mobilization and resistance to starvation in the insect vector Rhodnius prolixus
por: De Paula, Iron F., et al.
Publicado: (2023)

CPT-II deficiency needs to be detected in army personnel
por: Finsterer, Josef
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_qfcl4h5f4gnammbkjrkrrggm52