Results 41 to 50 of about 1,568 (176)

Differential regulation of intramuscular fat and abdominal fat deposition in chickens

BMC Genomics, 2022
Background Chicken intramuscular fat (IMF) content is closely related to meat quality and performance, such as tenderness and flavor. Abdominal fat (AF) in chickens is one of the main waste products at slaughter.
Na Luo, Jingting Shu, Xiaoya Yuan, Yuxi Jin, Huanxian Cui, Guiping Zhao, Jie Wen   +6 more
doaj   +1 more source

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

Molecular Genetics and Metabolism Reports, 2020
Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs.
Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama   +13 more
doaj   +1 more source

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis

Frontiers in Genetics, 2021
The purpose of the study was to use exome sequencing (ES) to study the contribution of single-gene disorders to recurrent non-immune hydrops fetalis (NIHF) and retrospectively evaluate the value of genetic diagnosis on prenatal management and pregnancy ...
Xinyao Zhou, Jia Zhou, Xing Wei, Ruen Yao, Yingjun Yang, Linbei Deng, Gang Zou, Xietong Wang, Yaping Yang, Yaping Yang, Tao Duan, Jian Wang, Luming Sun   +12 more
doaj   +1 more source

Table_2_Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.DOCX

, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Daniela Schlatzer (3690370), Frederick M. Allen (17388781), Joseph R. Abraham (17388778), John Barnard (267601), Marvin R. Natowicz (13301253)   +4 more
core   +1 more source

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

Scientific Reports, 2021
Glycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests.
Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Mohammad Hadi Imanieh, Mahmood Haghighat, Seyed Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Amirreza Jassbi, Marjan Mahboubifar, Alireza Alborzi   +10 more
doaj   +1 more source

Table_1_Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.DOCX

, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Daniela Schlatzer (3690370), Frederick M. Allen (17388781), Joseph R. Abraham (17388778), John Barnard (267601), Marvin R. Natowicz (13301253)   +4 more
core   +1 more source

Table_3_Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.DOCX

, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Daniela Schlatzer (3690370), Frederick M. Allen (17388781), Joseph R. Abraham (17388778), John Barnard (267601), Marvin R. Natowicz (13301253)   +4 more
core   +1 more source

Additional file 1: of Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity

, 2019
Figure S1. CCL5 and CXCL10 expression in LUAD cells with GBE1 overexpression. (A) Western blotting analysis and (B) the statistical analysis confirms GBE1 overexpression in A549 cells compared to negative control cells.
Yi Zhang (9093), Zijia Zhu (6863957), Dong Wang (73290), Feng Li (30515), Yujia Zheng (6716096), Wenhua Xue (6158285), Jingyao Lian (3900757), Jie Zhao (49409), Lifeng Li (3289017), Zhirui Fan (6158288), Zhibo Shen (5106995), Li Yang (6520), Shiqi Cheng (6863954), Kai Zhang (102844), Dan Wang (34472)   +14 more
core   +1 more source

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design [PDF]

, 2015
Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains, to increase solubility of the glycogen polymer.
Sasi, Meitav, Escribá, Pablo V, Froese, D Sean, Melaev, Esther, Goldblum, Amiram, Yue, Wyatt W, Michaeli, Amit, Krojer, Tobias, von Delft, Frank, Minassian, Berge A, Zatsepin, Maria, McCorvie, Thomas J, Lossos, Alexander, Álvarez, Rafael, Kakhlon, Or   +14 more
core   +1 more source

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration [PDF]

Neuropathology and Applied Neurobiology, 2014
Recently, Farmer et al. described the case of a 54-year-old Ashkenazi Jewish woman with a five-year course of progressive behavioral variant frontotemporal dementia (bvFTD) who was found at autopsy to have both adult polyglucosan body disease (APBD) (not, however, proven genetically) and frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-
Esther N. Bit‐Ivan, Kyung‐Hwa Lee, Darren Gitelman, Sandra Weintraub, Marsel Mesulam, Rosa Rademakers, Adrian M. Isaacs, Kimmo J. Hatanpaa, Charles L. White, Qinwen Mao, Orhan Akman, Salvatore DiMauro, Eileen H. Bigio   +12 more
openaire   +1 more source