Results 31 to 40 of about 1,590 (147)

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_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

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_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

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

Characterization of cognitive impairment in adult polyglucosan body disease

, 2022
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1.
Zebhauser, Paul Theo, Zebhauser, Paul Theo ; Cordts, Isabell ; Hengel, Holger ; Haslinger, Bernhard ; Lingor, Paul ; Akman, Hasan Orhan ; Haack, Tobias B. ; Deschauer, Marcus, Haslinger, Bernhard, Akman, Hasan Orhan, Haack, Tobias B., Hengel, Holger, Cordts, Isabell, Lingor, Paul, Zebhauser, Paul Theo;Cordts, Isabell;Hengel, Holger;Haslinger, Bernhard;Lingor, Paul;Akman, Hasan Orhan;Haack, Tobias B;Deschauer, Marcus, Deschauer, Marcus   +9 more
core   +1 more source

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Molecular Genetics and Metabolism Reports, 2018
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi   +7 more
doaj   +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