Results 161 to 170 of about 37,603 (244)

Reply—Nonimmune Hydrops Fetalis and Lysosomal Storage Diseases

Pediatrics and Neonatology, 2013
Ozge Surmeli-Onay, Ayse Korkmaz
doaj   +1 more source

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors. [PDF]

Antioxidants (Basel)
Guerra MV, Castro J, Moreno A, Balboa E, Marugan JJ, Alvarez AR, Zanlungo S.   +6 more
europepmc   +1 more source

[Lysosomes and lysosomal storage diseases].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1975
K K, Lie, S O, Lie
openaire   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source

Microbial metabolite indole‐3‐propionic acid preserves astrocytic mitochondrial mitofusin 2 to limit neuroinflammation after traumatic brain injury

Interdisciplinary Medicine, EarlyView.
Following traumatic brain injury, indole‐3‐propionic acid (IPA) directly targets the aryl hydrocarbon receptor on astrocytes in the peri‐lesional cortex; this suppresses interferon regulatory factor 1‐driven transcription of the E3 ubiquitin ligase RFFL (ring finger and FYVE‐like domain containing E3 ubiquitin protein ligase).
Ziwen Zhang, Kai Wang, Liangbo Wang, Wencong Li, Hao Guo, Meng Xu, Tinghao Wang, Jiahui Ren, Ting Zhu, Jiahui Wang, Wenxing Cui, Jinpeng Zhou, Yang Tian, Liying Han, Chengxuan Guo, Shuoyao Ma, Qiang Wang, Zhihong Li, Yaning Cai, Jingyu Dong, Xun Wu, Haixiao Liu, Yan Qu   +22 more
wiley   +1 more source

The emerging role and clinicopathological significance of MFSD12 in cancer and lysosomal storage diseases. [PDF]

Front Pharmacol
Ding L.
europepmc   +1 more source

Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent

JPGN Reports, EarlyView.
Abstract Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis.
Alexandra Hurlock, Melissa Lah, Hannah Sue Hyaduck, Jean P. Molleston, Chaowapong Jarasvaraparn   +4 more
wiley   +1 more source

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases. [PDF]

J Clin Med
Jerves Serrano T, Gold J, Cooper JA, Church HJ, Tylee KL, Wu HY, Kim SY, Stepien KM.   +7 more
europepmc   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

miR‐9 Restricts Insulin Secretion by Targeting Rab34, Which Mediates Lysosomal Degradation of Proinsulin

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Insulin secretion is a complex, vesicular transport process. Rab34 is a key regulator of intracellular vesicle transport; however, its role in insulin secretion has not yet been reported. miRNA‐9 is vital for the development and progression of the diagnosis and treatment of type 2 diabetes. This study aimed to investigate whether miR‐9 targets
Zhen‐Zhen Guo, Ao‐Ying Li, Ting‐Ting Xiang, Zu‐Hao Zhang, Ao Deng, Yang Han   +5 more
wiley   +1 more source