Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2023 Dec 9. doi: 10.1247/csf.23066. Online ahead of print.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fibroblas...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Struct Funct. 2024 Jan 23;49(1):1-10. doi: 10.1247/csf.23066. Epub 2023 Dec 9.ABSTRACTGaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes. Here, we investigated lysosomal abnormalities in fibroblasts derived from patients with GD. It is noteworthy that the cellular distribution of lysosomes and lysosomal proteolytic activity remained largely unaffected in GD fibroblasts. However, we found that lysosomal membranes of GD fib...
Source: Cell Structure and Function - December 10, 2023 Category: Cytology Authors: Asuka Hamamoto Natsuki Kita Siddabasave Gowda B Gowda Hiroyuki Takatsu Kazuhisa Nakayama Makoto Arita Shu-Ping Hui Hye-Won Shin Source Type: research
Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1
Gaucher disease (GD) is a lysosomal storage disorder (LSD) caused by the defective activity of acid β-glucosidase (GCase;GBA1 gene). Neurological forms of GD (nGD) can be generated in mice by intra-peritoneal injection of conduritol B-epoxide (CBE) which irreversibly inhibits GCase. We performed non-targeted proteomics on brains from mice injected with 50 mg/kg body weight CBE. Approximately 5000 detected proteins were analyzed and compared with RNAseq data from previous studies. One protein, transglutaminase 1 (TGM1), was absent from the control group but was found at high levels in CBE-injected mice, and located in t...
Source: Journal of Neurochemistry - December 10, 2023 Category: Neuroscience Authors: Shani Blumenreich,
Doreen Padan Ben ‐Yashar,
Tali Shalit,
Meital Kupervaser,
Ivan Milenkovic,
Tammar Joseph,
Anthony H. Futerman Tags: ORIGINAL ARTICLE Source Type: research
Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease
(Source: Cardiovascular and Haematological Disorders - Drug Targets)
Source: Cardiovascular and Haematological Disorders - Drug Targets - December 7, 2023 Category: Cardiology Authors: Alam, Farid Singh, Jitendra Kumar, Nilesh Kumar, Kailash Dinkar, Anju Tags: Case report Source Type: research
Lysoglycosphingolipids have the ability to induce cell death through direct PI3K inhibition
We propose lysoglycosphingolipids (lysoGSLs) as a cause of neuronal cell death in sphingolipidoses. In sphingolipidoses, glycosphingolipids accumulate excessively in lysosomes and lysoGSLs are generated. These lysoGSLs directly inhibit phosphoinositide 3-kinase (PI3K), suppress downstream PI3K/Akt signaling, and induce apoptotic signaling. Since multiple lysoGSLs cause PI3K inhibition, lysoGSLs are thought to be a common cause of neuronal cell death in sphingolipidoses. This finding suggests a new therapeutic approach to sphingolipidoses, which are extremely difficult to treat. AbstractSphingolipidoses are inherited metabo...
Source: Journal of Neurochemistry - November 18, 2023 Category: Neuroscience Authors: Ryosuke Watanabe,
Daisuke Tsuji,
Hiroki Tanaka,
Michael Shintaro Uno,
Yukiya Ohnishi,
Shindai Kitaguchi,
Tsuyoshi Matsugu,
Ryuto Nakae,
Hiromi Teramoto,
Kei Yamamoto,
Yasuo Shinohara,
Takatsugu Hirokawa,
Nozomu Okino,
Makoto Ito,
Kohji Itoh Tags: ORIGINAL ARTICLE Source Type: research
Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients
In conclusion, we evaluated six different mutations in Iranian patients and elucidated the inheritance of the three less-known mutations by linkage analysis.PMID:37942259 | PMC:PMC10629722 | DOI:10.22088/IJMCM.BUMS.12.1.40 (Source: Molecular Medicine)
Source: Molecular Medicine - November 9, 2023 Category: Molecular Biology Authors: Negar Sardarpour Hamideh Bagherian Fatemeh Zafarghandi Motlagh Tina Shirzadeh Sadaf Asnavandi Shahrzad Younesikhah Shadab Salehpour Aria Setoodeh Mohammad Reza Alaei Sirous Zeinali Source Type: research
