Results 31 to 40 of about 1,137 (152)

Successful treatment of severe MSUD in Bckdhb^−/− mice with neonatal AAV gene therapy

Journal of Inherited Metabolic Disease, 2023
AbstractMaple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched‐chain 2‐ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched‐chain amino acids and 2‐keto acids.
Clément Pontoizeau, Clovis Gaborit, Nolan Tual, Marcelo Simon‐Sola, Irina Rotaru, Marion Benoist, Pasqualina Colella, Antonin Lamazière, Anaïs Brassier, Jean‐Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff   +15 more
openaire   +2 more sources

Exploring cortical proteins underlying the relation of neuroticism to cognitive resilience

Aging Brain, 2022
Some individuals maintain cognitive health despite neuropathology. Targets impacting “cognitive resilience” may provide interventions for preventing dementia without decreasing neuropathology.
Francine Grodstein, Lei Yu, Philip L. de Jager, Allan Levey, Nicholas T. Seyfried, David A. Bennett   +5 more
doaj   +1 more source

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Orphanet Journal of Rare Diseases, 2020
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo   +17 more
doaj   +1 more source

Transcriptome Remodeling and Adaptive Preservation of Muscle Protein Content in Hibernating Black Bears. [PDF]

Ecol Evol
ABSTRACT Hibernation is an energy‐saving adaptation associated with physical inactivity. In contrast to most mammals, hibernating bears demonstrate limited loss of muscle mass and protein content over the prolonged periods of immobility and fasting during winter.
Fedorov VB, Garreau A, Tøien Ø, Barnes BM, Goropashnaya AV.   +4 more
europepmc   +2 more sources

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Scientific Reports, 2021
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males)
Xiaohua Fang, Xiaofan Zhu, Yin Feng, Ying Bai, Xuechao Zhao, Xiangdong Kong, Ning Liu   +6 more
doaj   +1 more source

In silico analysis of single nucleotide polymorphisms in BCKDHA and BCKDHB genes associated with maple syrup urine disease (MSUD) [PDF]

, 2023
Akçaağaç şurubu idrar hastalığı (Maple Syrup Urinary Disease; MSUD), dallı zincirli α-ketoasit dehidrogenaz enzim kompleksinin (BCKD) azalmış aktivitesine bağlı gelişen, nadir görülen otozomal resesif geçiş gösteren metabolik bir hastalıktır.
ÇÖRDÜKÇÜ, Keziban
core  

Three new genes associated with longevity in the European Bison

Veterinary and Animal Science, 2022
Longevity-related genes have been found in humans, mice, dogs and in several other animal species. The goal of this study was to perform genetic analysis of long-lived European bisons with the aim to find genes that are associated with longevity using ...
Evžen Korec, Lenka Ungrová, Jiří Hejnar, Adéla Grieblová, Kateřina Zelená   +4 more
doaj   +1 more source

Mild inborn errors of metabolism in commonly used inbred mouse strains [PDF]

, 2019
Inbred mouse strains are a cornerstone of translational research but paradoxically many strains carry mild inborn errors of metabolism. For example, alpha-aminoadipic acidemia and branched-chain ketoacid dehydrogenase deficiency are known in C57BL/6J ...
Leandro, Joao, Yu, Chunli, Violante, Sara, Zhang, Wei, Houten, Sander M., WILLIAMS, Evan, Auwerx, Johan, Hagen, Jacob, Bender, Aaron, Williams, Evan G., Argmann, Carmen A., Dodatko, Tetyana, Bachmann, Alexis M.   +12 more
core   +1 more source

PPM1K defects cause mild maple syrup urine disease: The second case in the literature

, 2023
© 2023 Wiley Periodicals LLC.Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched-chain amino acids.
Firat Ozcelik, Busra Ozguc Caliskan, ARSLAN, SEZAİ, Munis Dundar, KARDAŞ, FATİH, Sezai Arslan, Yusuf Ozkul, DÜNDAR, MUNİS, Ozguc Caliskan, Busra, ÖZKUL, YUSUF, ÖZÇELİK, FIRAT, Fatih Kardas   +11 more
core   +1 more source

Response of Turbot Scophthalmus maximus (Linnaeus, 1758) to Imbalanced Branched-Chain Amino Acids in Diets

Fishes, 2023
The aim of this study was to investigate the effects of imbalanced dietary BCAAs, especially Leu, on the growth and BCAA metabolism in turbot. A control diet was formulated by keeping optimum levels of Leu, Ile and Val.
Lu Wang, Jinshi Liu, Yanlu Li, Qiang Ma, Houguo Xu, Mengqing Liang, Yuliang Wei   +6 more
doaj   +1 more source