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https://www.readbyqxmd.com/read/28610891/n-butyldeoxynojirimycin-delays-motor-deficits-cerebellar-microgliosis-and-purkinje-cell-loss-in-a-mouse-model-of-mucolipidosis-type-iv
#1
Lauren C Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L Wang, Kostantin Dobrenis, Steven U Walkley
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene encoding mucolipin-1, a transient receptor potential channel believed to play a key role in lysosomal calcium egress. Loss of mucolipin-1 and subsequent defects lead to a host of cellular aberrations, including accumulation of glycosphingolipids (GSLs) in neurons and other cell types, microgliosis and, as reported here, cerebellar Purkinje cell loss...
June 10, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28553404/mucolipidosis-type-ii-secondary-to-gnptab-gene-deletion-from-india
#2
Vykuntaraju K Gowda, Varun V Raghavan, Meenakshi Bhat, Asha Benakappa
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28529827/deviant-lysosomal-ca-2-signalling-in-neurodegeneration-an-introduction
#3
Sandip Patel
Lysosomes are key acidic Ca(2+) stores. The principle Ca(2+)-permeable channels of the lysosome are TRP mucolipins (TRPMLs) and NAADP-regulated two-pore channels (TPCs). Recent studies, reviewed in this collection, have linked numerous neurodegenerative diseases to both gain and loss of function of TRPMLs/TPCs, as well as to defects in acidic Ca(2+) store content. These diseases span rare lysosomal storage disorders such as Mucolipidosis Type IV and Niemann-Pick disease, type C, through to more common ones such as Alzheimer and Parkinson disease...
June 1, 2016: Messenger
https://www.readbyqxmd.com/read/28486130/gastric-acid-secretion-from-parietal-cells-is-mediated-by-a-ca-2-efflux-channel-in-the-tubulovesicle
#4
Nirakar Sahoo, Mingxue Gu, Xiaoli Zhang, Neel Raval, Junsheng Yang, Michael Bekier, Raul Calvo, Samarjit Patnaik, Wuyang Wang, Greyson King, Mohammad Samie, Qiong Gao, Sasmita Sahoo, Sinju Sundaresan, Theresa M Keeley, Yanzhuang Wang, Juan Marugan, Marc Ferrer, Linda C Samuelson, Juanita L Merchant, Haoxing Xu
Gastric acid secretion by parietal cells requires trafficking and exocytosis of H/K-ATPase-rich tubulovesicles (TVs) toward apical membranes in response to histamine stimulation via cyclic AMP elevation. Here, we found that TRPML1 (ML1), a protein that is mutated in type IV mucolipidosis (ML-IV), is a tubulovesicular channel essential for TV exocytosis and acid secretion. Whereas ML-IV patients are reportedly achlorhydric, transgenic overexpression of ML1 in mouse parietal cells induced constitutive acid secretion...
May 8, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28457591/from-mucolipidosis-type-iv-to-ebola-trpml-and-two-pore-channels-at-the-crossroads-of-endo-lysosomal-trafficking-and-disease
#5
REVIEW
Christian Grimm, Elisabeth Butz, Cheng-Chang Chen, Christian Wahl-Schott, Martin Biel
What do lysosomal storage disorders such as mucolipidosis type IV have in common with Ebola, cancer cell migration, or LDL-cholesterol trafficking? LDL-cholesterol, certain bacterial toxins and viruses, growth factors, receptors, integrins, macromolecules destined for degradation or secretion are all sorted and transported via the endolysosomal system (ES). There are several pathways known in the ES, e.g. the degradation, the recycling, or the retrograde trafficking pathway. The ES comprises early and late endosomes, lysosomes and recycling endosomes as well as autophagosomes and lysosome related organelles...
April 23, 2017: Cell Calcium
https://www.readbyqxmd.com/read/28449103/novel-degenerative-and-developmental-defects-in-a-zebrafish-model-of-mucolipidosis-type-iv
#6
Huiqing Li, Wuhong Pei, Sivia Vergarajauregui, Patricia M Zerfas, Nina Raben, Shawn M Burgess, Rosa Puertollano
Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study we used genome editing to knockout the two mcoln1 genes present in Dario rerio (zebrafish). Our model successfully reproduced the retinal and neuromuscular defects observed in MLIV patients, indicating that this model is suitable for studying the disease pathogenesis...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28396763/neonatal-mucolipidosis-type-ii-alpha-beta-due-to-compound-heterozygosity-for-a-known-and-novel-gnptab-mutation-and-a-concomitant-heterozygous-change-in-serpinf1-inherited-from-the-mother
#7
Kirsten A Wood, Regina M Zambrano, Bradley J Cheek, Christopher Arcement, Marie Haymon, Jessica Steinkampf, Srirangan Sampath, James C Hyland, Yves Lacassie
We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28392473/elucidating-the-behavioral-phenotype-of-patients-affected-with-mucolipidosis-iv-what-can-we-learn-from-the-parents
#8
Perri Segal, Ben Pode-Shakked, Annick Raas-Rothschild
BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. Nowadays with the use of new tools such as next generation sequencing, more ML-IV affected patients are diagnosed. Still, identifying the behavioral phenotype might be of help for early diagnosis and anticipatory guidance, as well as for counseling of the families. OBJECTIVE: Identification of the behavioral characteristics of 12 ML-IV patients, aged from 2...
June 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28112729/structural-basis-of-dual-ca-2-ph-regulation-of-the-endolysosomal-trpml1-channel
#9
Minghui Li, Wei K Zhang, Nicole M Benvin, Xiaoyuan Zhou, Deyuan Su, Huan Li, Shu Wang, Ioannis E Michailidis, Liang Tong, Xueming Li, Jian Yang
The activities of organellar ion channels are often regulated by Ca(2+) and H(+), which are present in high concentrations in many organelles. Here we report a structural element critical for dual Ca(2+)/pH regulation of TRPML1, a Ca(2+)-release channel crucial for endolysosomal function. TRPML1 mutations cause mucolipidosis type IV (MLIV), a severe lysosomal storage disorder characterized by neurodegeneration, mental retardation and blindness. We obtained crystal structures of the 213-residue luminal domain of human TRPML1 containing three missense MLIV-causing mutations...
March 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#10
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28062798/quantitative-proteome-analysis-of-mouse-liver-lysosomes-provides-evidence-for-mannose-6-phosphate-independent-targeting-mechanisms-of-acid-hydrolases-in-mucolipidosis-ii
#11
Sandra Markmann, Svenja Krambeck, Christopher J Hughes, Mina Mirzaian, Johannes M F G Aerts, Paul Saftig, Michaela Schweizer, Johannes P C Vissers, Thomas Braulke, Markus Damme
The efficient receptor-mediated targeting of soluble lysosomal proteins to lysosomes requires the modification with mannose 6-phosphate (M6P) residues. Although the absence of M6P results in misrouting and hypersecretion of lysosomal enzymes in many cells, normal levels of lysosomal enzymes have been reported in liver of patients lacking the M6P-generating phosphotransferase (PT). The identity of lysosomal proteins depending on M6P has not yet been comprehensively analyzed. In this study we purified lysosomes from liver of PT-defective mice and 67 known soluble lysosomal proteins were identified that illustrated quantitative changes using an ion mobility-assisted data-independent label-free LC-MS approach...
March 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28044261/cognitive-development-in-a-young-child-with-mucolipidosis-type-iv-a-case-report
#12
Evelyn L Fisher, Rose A Sevcik, MaryAnn Romski
Mucolipidosis Type IV (ML IV) is an autosomal recessive genetic disorder characterized by severe psychomotor impairments and ophthalmologic abnormalities. Reports on the cognitive development of people with ML IV are limited, but suggest that achievement of language and cognitive milestones varies between a 3- and 18-month level. There is also variability in reports of whether people with ML IV make developmental progress, regress, or remain static after infancy. This study examines the longitudinal development of a young child with ML IV who participated in an augmentative and alternative communication (AAC) intervention...
January 3, 2017: JIMD Reports
https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#13
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27797444/hereditary-fructose-intolerance-mimicking-a-biochemical-phenotype-of-mucolipidosis-a-review-of-the-literature-of-secondary-causes-of-lysosomal-enzyme-activity-elevation-in-serum
#14
Carlos R Ferreira, Joseph M Devaney, Sean E Hofherr, Laura M Pollard, Kristina Cusmano-Ozog
We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before introduction of solid foods, given her consumption of a fructose-containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma α-mannosidase activity, should elicit a differential diagnosis of HFI...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27785713/i-cell-disease-mucolipidosis-ii-alpha-beta-from-screening-to-molecular-diagnosis
#15
Ankur Singh, Rajniti Prasad, Aditya Kumar Gupta, Anil Sharma, Sandra Alves, Maria Francisca Coutinho, Seema Kapoor, Om Prakash Mishra
Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case...
February 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27710913/solving-a-case-of-allelic-dropout-in-the-gnptab-gene-implications-in-the-molecular-diagnosis-of-mucolipidosis-type-iii-alpha-beta
#16
Maria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, Lúcia Lacerda, Maria João Prata, Sandra Alves
While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β-subunits of the GlcNAc-1-phosphotransferase...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27707435/progression-of-polysomnographic-abnormalities-in-mucolipidosis-ii-i-cell-disease
#17
William I Wooten, Marianne S Muhlebach, Joseph Muenzer, Ceila E Loughlin, Bradley V Vaughn
Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy...
December 15, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27670435/bk-channel-agonist-represents-a-potential-therapeutic-approach-for-lysosomal-storage-diseases
#18
Xi Zoë Zhong, Xue Sun, Qi Cao, Gaofeng Dong, Raphael Schiffmann, Xian-Ping Dong
Efficient lysosomal Ca(2+) release plays an essential role in lysosomal trafficking. We have recently shown that lysosomal big conductance Ca(2+)-activated potassium (BK) channel forms a physical and functional coupling with the lysosomal Ca(2+) release channel Transient Receptor Potential Mucolipin-1 (TRPML1). BK and TRPML1 forms a positive feedback loop to facilitate lysosomal Ca(2+) release and subsequent lysosome membrane trafficking. However, it is unclear whether the positive feedback mechanism is common for other lysosomal storage diseases (LSDs) and whether BK channel agonists rescue abnormal lysosomal storage in LSDs...
September 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27662472/mutation-analysis-of-16-mucolipidosis-ii-and-iii-alpha-beta-chinese-children-revealed-genotype-phenotype-correlations
#19
Shuang Liu, Weimin Zhang, Huiping Shi, Fengxia Yao, Min Wei, Zhengqing Qiu
Mucolipidosis II and III alpha/beta are autosomal recessive diseases caused by mutations in the GNPTAB gene which encodes the α and β subunits of the N-acetylglucosamine-1-phosphotransferase. Clinically, mucolipidosis II (MLII) is characterized by severe developmental delay, coarse facial features, skeletal deformities, and other systemic involvement. In contrast, MLIII alpha/beta is a much milder disorder, the symptoms of which include progressive joint stiffness, short stature, and scoliosis. To study the relationship between the genotypes and phenotypes of the MLII and MLIII alpha/beta patients, we analyzed the GNPTAB gene in 16 Chinese MLII and MLIII alpha/beta patients...
2016: PloS One
https://www.readbyqxmd.com/read/27589205/lysosomal-ca-2-signaling-is-essential-for-osteoclastogenesis-and-bone-remodeling
#20
Munkhsoyol Erkhembaatar, Dong Ryun Gu, Seoung Hoon Lee, Yu-Mi Yang, Soonhong Park, Shmuel Muallem, Dong Min Shin, Min Seuk Kim
Lysosomal Ca(2+) emerges as a critical component of receptor-evoked Ca(2+) signaling and plays a crucial role in many lysosomal and physiological functions. Lysosomal Ca(2+) release is mediated by the transient receptor potential (TRP) family member TRPML1, mutations that cause the lysosomal storage disease mucolipidosis type 4. Lysosomes play a key role in osteoclast function. However, nothing is known about the role of lysosomal Ca(2+) signaling in osteoclastogenesis and bone metabolism. In this study, we addressed this knowledge gap by studying the role of lysosomal Ca(2+) signaling in osteoclastogenesis, osteoclast and osteoblast functions, and bone homeostasis in vivo...
September 2, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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