Cellular and Molecular Life Sciences : CMLS This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Probing of the reactive center loop region of alpha-1-antitrypsin by mutagenesis predicts new type-2 dysfunctional variants
Cell Mol Life Sci. 2023 Dec 13;81(1):6. doi: 10.1007/s00018-023-05059-1.ABSTRACTLung disease in alpha-1-antitrypsin deficiency (AATD) mainly results from insufficient control of the serine proteases neutrophil elastase (NE) and proteinase-3 due to reduced plasma levels of alpha-1-antitrypsin (AAT) variants. Mutations in the specificity-determining reactive center loop (RCL) of AAT would be predicted to minimally affect protein folding and secretion by hepatocytes but can impair anti-protease activity or alter the target protease. These properly secreted but dysfunctional 'type-2' variants would not be identified by common ...
Source: Cellular and Molecular Life Sciences : CMLS - December 12, 2023 Category: Cytology Authors: Andrea Denardo Emna Ben Khlifa Mattia Bignotti Roberta Giuliani Emanuela D'Acunto Elena Miranda James A Irving Annamaria Fra Source Type: research

SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities
Cell Mol Life Sci. 2023 Dec 12;81(1):5. doi: 10.1007/s00018-023-05052-8.ABSTRACTSHP2 phosphatase promotes full activation of the RTK-dependent Ras/MAPK pathway. Its mutations can drive cancer and RASopathies, a group of neurodevelopmental disorders (NDDs). Here we ask how same residue mutations in SHP2 can lead to both cancer and NDD phenotypes, and whether we can predict what the outcome will be. We collected and analyzed mutation data from the literature and cancer databases and performed molecular dynamics simulations of SHP2 mutants. We show that both cancer and Noonan syndrome (NS, a RASopathy) mutations favor catalys...
Source: Cellular and Molecular Life Sciences : CMLS - December 12, 2023 Category: Cytology Authors: Yonglan Liu Wengang Zhang Hyunbum Jang Ruth Nussinov Source Type: research

Myeloid SENP3 deficiency protects mice from diet and age-induced obesity via regulation of YAP1 SUMOylation
Cell Mol Life Sci. 2023 Dec 9;81(1):4. doi: 10.1007/s00018-023-05050-w.ABSTRACTObesity is characterized by chronic low-grade inflammation, which is driven by macrophage infiltration in adipose tissue and leads to elevated cytokines such as interleukin-1β (IL-1β) in the circulation and tissues. Previous studies demonstrate that SENP3, a redox-sensitive SUMO2/3-specific protease, is strongly implicated in the development and progression of cancer and cardiovascular diseases. However, the role of SENP3 in obesity-associated inflammation remains largely unknown. To better understand the effects of SENP3 on adipose tissue mac...
Source: Cellular and Molecular Life Sciences : CMLS - December 9, 2023 Category: Cytology Authors: Yangjing Jiang Min Liang Long Chen Jian Wang Yijie Huang Huanhuan Huo Danrui Xiao Yunwen Hu Zi Wang Qingqi Ji Yanjie Li Zhaohua Cai Ben He Source Type: research

Myeloid SENP3 deficiency protects mice from diet and age-induced obesity via regulation of YAP1 SUMOylation
Cell Mol Life Sci. 2023 Dec 9;81(1):4. doi: 10.1007/s00018-023-05050-w.ABSTRACTObesity is characterized by chronic low-grade inflammation, which is driven by macrophage infiltration in adipose tissue and leads to elevated cytokines such as interleukin-1β (IL-1β) in the circulation and tissues. Previous studies demonstrate that SENP3, a redox-sensitive SUMO2/3-specific protease, is strongly implicated in the development and progression of cancer and cardiovascular diseases. However, the role of SENP3 in obesity-associated inflammation remains largely unknown. To better understand the effects of SENP3 on adipose tissue mac...
Source: Cellular and Molecular Life Sciences : CMLS - December 9, 2023 Category: Cytology Authors: Yangjing Jiang Min Liang Long Chen Jian Wang Yijie Huang Huanhuan Huo Danrui Xiao Yunwen Hu Zi Wang Qingqi Ji Yanjie Li Zhaohua Cai Ben He Source Type: research

Mfsd7b facilitates choline transport and missense mutations affect choline transport function
Cell Mol Life Sci. 2023 Dec 6;81(1):3. doi: 10.1007/s00018-023-05048-4.ABSTRACTMFSD7b belongs to the Major Facilitator Superfamily of transporters that transport small molecules. Two isoforms of MFSD7b have been identified and they are reported to be heme exporters that play a crucial role in maintaining the cytosolic and mitochondrial heme levels, respectively. Mutations of MFSD7b (also known as FLVCR1) have been linked to retinitis pigmentosa, posterior column ataxia, and hereditary sensory and autonomic neuropathy. Although MFSD7b functions have been linked to heme detoxification by exporting excess heme from erythroid ...
Source: Cellular and Molecular Life Sciences : CMLS - December 6, 2023 Category: Cytology Authors: Hoa Thi Thuy Ha Viresh Krishnan Sukumar Jonathan Wei Bao Chua Dat T Nguyen Toan Q Nguyen Lina Hsiu Kim Lim Amaury Cazenave-Gassiot Long N Nguyen Source Type: research